Canonical Allele Identifier: CA2717006257
Gene: FGFR1 HGNC NCBI

Linked Data

dbSNP Id: rs2150811807
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38424499C>A , CM000670.2:g.38424499C>A GRCh38
NC_000008.10:g.38282017C>A , CM000670.1:g.38282017C>A GRCh37
NC_000008.9:g.38401174C>A NCBI36
NG_007729.1:g.49336G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703405.1:c.930+10G>T ENSP00000515291.1:n.930+10G>T
ENST00000341462.9:c.930+10G>T ENSP00000340636.7:n.930+10G>T
ENST00000425967.8:c.930+10G>T ENSP00000393312.4:n.930+10G>T
ENST00000682770.1:n.665G>T
ENST00000683276.1:n.1907G>T
ENST00000683765.1:c.940G>T ENSP00000507039.1:p.Ala314Ser
ENST00000683795.1:n.1655G>T
ENST00000683815.1:c.930+10G>T ENSP00000507997.1:n.930+10G>T
ENST00000683948.1:n.1630+10G>T
ENST00000684654.1:c.663+10G>T ENSP00000507205.1:n.663+10G>T
ENST00000447712.7:c.936+10G>T MANE Select ENSP00000400162.2:n.936+10G>T
ENST00000649678.1:c.930+10G>T ENSP00000497266.1:n.930+10G>T
ENST00000674189.1:c.*589-2558G>T ENSP00000501345.1:n.*589-2558G>T
ENST00000674217.1:n.115+10G>T
ENST00000674235.1:c.572+10G>T
ENST00000674380.1:c.*903+10G>T ENSP00000501514.1:n.*903+10G>T
ENST00000674474.1:n.1196+10G>T
ENST00000326324.10:c.663+10G>T ENSP00000327229.6:n.663+10G>T
ENST00000335922.9:c.912+10G>T ENSP00000337247.5:n.912+10G>T
ENST00000341462.8:c.939+10G>T ENSP00000340636.6:n.939+10G>T
ENST00000356207.9:c.669+10G>T ENSP00000348537.5:n.669+10G>T
ENST00000397091.9:c.930+10G>T ENSP00000380280.5:n.930+10G>T
ENST00000397103.5:c.663+10G>T ENSP00000380292.1:n.663+10G>T
ENST00000397108.8:c.930+10G>T ENSP00000380297.4:n.930+10G>T
ENST00000397113.6:c.930+10G>T ENSP00000380302.2:n.930+10G>T
ENST00000425967.7:c.1029+10G>T ENSP00000393312.3:n.1029+10G>T
ENST00000447712.6:c.936+10G>T ENSP00000400162.2:n.936+10G>T
ENST00000464163.1:n.113+10G>T
ENST00000470826.5:n.1095G>T
ENST00000475621.1:n.251+10G>T
ENST00000487647.5:c.813+10G>T ENSP00000435254.1:n.813+10G>T
ENST00000496296.5:n.1416G>T
ENST00000526570.5:n.3215+10G>T
ENST00000530701.1:n.178-2558G>T
ENST00000532791.5:c.936+10G>T ENSP00000432972.1:n.936+10G>T
ENST00000619564.3:c.663+10G>T ENSP00000484553.1:n.663+10G>T
NM_001174063.1:c.936+10G>T NP_001167534.1:n.936+10G>T
NM_001174064.1:c.912+10G>T NP_001167535.1:n.912+10G>T
NM_001174065.1:c.930+10G>T NP_001167536.1:n.930+10G>T
NM_001174066.1:c.669+10G>T NP_001167537.1:n.669+10G>T
NM_001174067.1:c.1029+10G>T NP_001167538.1:n.1029+10G>T
NM_015850.3:c.930+10G>T NP_056934.2:n.930+10G>T
NM_023105.2:c.669+10G>T NP_075593.1:n.669+10G>T
NM_023106.2:c.663+10G>T NP_075594.1:n.663+10G>T
NM_023110.2:c.936+10G>T NP_075598.2:n.936+10G>T
XM_006716303.2:c.936+10G>T XP_006716366.1:n.936+10G>T
XM_006716304.1:c.936+10G>T XP_006716367.1:n.936+10G>T
XM_006716305.2:c.936+10G>T XP_006716368.1:n.936+10G>T
XM_006716306.2:c.930+10G>T XP_006716369.1:n.930+10G>T
XM_006716307.1:c.930+10G>T XP_006716370.1:n.930+10G>T
XM_006716309.2:c.912+10G>T XP_006716372.1:n.912+10G>T
XM_006716310.2:c.669+10G>T XP_006716373.1:n.669+10G>T
XM_006716311.1:c.669+10G>T XP_006716374.1:n.669+10G>T
XM_006716312.1:c.669+10G>T XP_006716375.1:n.669+10G>T
XM_006716313.2:c.663+10G>T XP_006716376.1:n.663+10G>T
XM_006716314.1:c.663+10G>T XP_006716377.1:n.663+10G>T
XM_011544443.1:c.1035+10G>T XP_011542745.1:n.1035+10G>T
XM_011544444.1:c.1029+10G>T XP_011542746.1:n.1029+10G>T
XM_011544445.1:c.1035+10G>T XP_011542747.1:n.1035+10G>T
XM_011544446.1:c.1035+10G>T XP_011542748.1:n.1035+10G>T
XM_011544447.1:c.1035+10G>T XP_011542749.1:n.1035+10G>T
XM_011544448.1:c.768+10G>T XP_011542750.1:n.768+10G>T
XM_011544449.1:c.762+10G>T XP_011542751.1:n.762+10G>T
XM_011544450.1:c.762+10G>T XP_011542752.1:n.762+10G>T
XM_011544451.1:c.645+10G>T XP_011542753.1:n.645+10G>T
XM_011544452.1:c.1029+10G>T XP_011542754.1:n.1029+10G>T
NM_001354367.1:c.930+10G>T NP_001341296.1:n.930+10G>T
NM_001354368.1:c.663+10G>T NP_001341297.1:n.663+10G>T
NM_001354369.1:c.930+10G>T NP_001341298.1:n.930+10G>T
NM_001354370.1:c.663+10G>T NP_001341299.1:n.663+10G>T
XM_006716303.3:c.936+10G>T XP_006716366.1:n.936+10G>T
XM_006716310.3:c.669+10G>T XP_006716373.1:n.669+10G>T
XM_006716312.2:c.669+10G>T XP_006716375.1:n.669+10G>T
XM_006716314.2:c.663+10G>T XP_006716377.1:n.663+10G>T
XM_011544443.2:c.1035+10G>T XP_011542745.1:n.1035+10G>T
XM_011544445.2:c.1035+10G>T XP_011542747.1:n.1035+10G>T
XM_011544446.2:c.1035+10G>T XP_011542748.1:n.1035+10G>T
XM_011544447.2:c.1035+10G>T XP_011542749.1:n.1035+10G>T
XM_011544450.2:c.762+10G>T XP_011542752.1:n.762+10G>T
XM_011544452.2:c.1029+10G>T XP_011542754.1:n.1029+10G>T
XM_017013219.1:c.1029+10G>T XP_016868708.1:n.1029+10G>T
XM_017013220.1:c.1029+10G>T XP_016868709.1:n.1029+10G>T
XM_017013221.1:c.936+10G>T XP_016868710.1:n.936+10G>T
XM_017013222.2:c.936+10G>T XP_016868711.1:n.936+10G>T
XM_017013224.2:c.930+10G>T XP_016868713.1:n.930+10G>T
XM_017013225.2:c.930+10G>T XP_016868714.1:n.930+10G>T
XM_017013226.1:c.768+10G>T XP_016868715.1:n.768+10G>T
XM_017013227.1:c.762+10G>T XP_016868716.1:n.762+10G>T
XM_017013229.2:c.-1265+10G>T XP_016868718.1:n.-1265+10G>T
XM_017013230.1:c.-1265+10G>T XP_016868719.1:n.-1265+10G>T
XM_017013231.1:c.1035+10G>T XP_016868720.1:n.1035+10G>T
XM_024447097.1:c.912+10G>T XP_024302865.1:n.912+10G>T
XR_001745495.1:n.1184+10G>T
XR_001745496.1:n.1184+10G>T
NM_001174063.2:c.936+10G>T NP_001167534.1:n.936+10G>T
NM_001174064.2:c.912+10G>T NP_001167535.1:n.912+10G>T
NM_001174065.2:c.930+10G>T NP_001167536.1:n.930+10G>T
NM_001174066.2:c.669+10G>T NP_001167537.1:n.669+10G>T
NM_001354368.2:c.663+10G>T NP_001341297.1:n.663+10G>T
NM_015850.4:c.930+10G>T NP_056934.2:n.930+10G>T
NM_023105.3:c.669+10G>T NP_075593.1:n.669+10G>T
NM_023106.3:c.663+10G>T NP_075594.1:n.663+10G>T
NM_023110.3:c.936+10G>T MANE Select NP_075598.2:n.936+10G>T
NM_001174067.2:c.1029+10G>T NP_001167538.1:n.1029+10G>T
NM_001354367.2:c.930+10G>T NP_001341296.1:n.930+10G>T
NM_001354369.2:c.930+10G>T NP_001341298.1:n.930+10G>T
NM_001354370.2:c.663+10G>T NP_001341299.1:n.663+10G>T
Search 100 bp 5'
Search 100 bp 3'