Canonical Allele Identifier: CA16042715
Gene: FGFR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372901
ClinVar RCV Id: RCV000413066
dbSNP Id: rs1057518060

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38414276C>G , CM000670.2:g.38414276C>G GRCh38
NC_000008.10:g.38271794C>G , CM000670.1:g.38271794C>G GRCh37
NC_000008.9:g.38390951C>G NCBI36
NG_007729.1:g.59559G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000703405.1:c.2062G>C ENSP00000515291.1:p.Val688Leu
ENST00000341462.9:c.2050G>C ENSP00000340636.7:p.Val684Leu
ENST00000425967.8:c.2050G>C ENSP00000393312.4:p.Val684Leu
ENST00000524528.2:n.2955G>C
ENST00000682398.1:n.1302G>C
ENST00000683132.1:n.752G>C
ENST00000683765.1:c.2242G>C ENSP00000507039.1:p.Val748Leu
ENST00000683815.1:c.2050G>C ENSP00000507997.1:p.Val684Leu
ENST00000683948.1:n.2750G>C
ENST00000684654.1:c.1783G>C ENSP00000507205.1:p.Val595Leu
ENST00000447712.7:c.2062G>C MANE Select ENSP00000400162.2:p.Val688Leu
ENST00000649678.1:c.2050G>C ENSP00000497266.1:p.Val684Leu
ENST00000674189.1:c.*1708G>C ENSP00000501345.1:n.*1708G>C
ENST00000674380.1:c.*2029G>C ENSP00000501514.1:n.*2029G>C
ENST00000674474.1:n.3556G>C
ENST00000326324.10:c.1789G>C ENSP00000327229.6:p.Val597Leu
ENST00000335922.9:c.2032G>C ENSP00000337247.5:p.Val678Leu
ENST00000341462.8:c.*1112G>C ENSP00000340636.6:n.*1112G>C
ENST00000356207.9:c.1795G>C ENSP00000348537.5:p.Val599Leu
ENST00000397091.9:c.2056G>C ENSP00000380280.5:p.Val686Leu
ENST00000397103.5:c.1795G>C ENSP00000380292.1:p.Val599Leu
ENST00000397108.8:c.2056G>C ENSP00000380297.4:p.Val686Leu
ENST00000397113.6:c.2056G>C ENSP00000380302.2:p.Val686Leu
ENST00000425967.7:c.2155G>C ENSP00000393312.3:p.Val719Leu
ENST00000447712.6:c.2062G>C ENSP00000400162.2:p.Val688Leu
ENST00000526570.5:n.4341G>C
ENST00000531196.5:c.262G>C ENSP00000434800.1:p.Val88Leu
ENST00000532791.5:c.2056G>C ENSP00000432972.1:p.Val686Leu
ENST00000619564.3:c.*957G>C ENSP00000484553.1:n.*957G>C
NM_001174063.1:c.2056G>C NP_001167534.1:p.Val686Leu
NM_001174064.1:c.2032G>C NP_001167535.1:p.Val678Leu
NM_001174065.1:c.2056G>C NP_001167536.1:p.Val686Leu
NM_001174066.1:c.1795G>C NP_001167537.1:p.Val599Leu
NM_001174067.1:c.2155G>C NP_001167538.1:p.Val719Leu
NM_015850.3:c.2056G>C NP_056934.2:p.Val686Leu
NM_023105.2:c.1795G>C NP_075593.1:p.Val599Leu
NM_023106.2:c.1789G>C NP_075594.1:p.Val597Leu
NM_023110.2:c.2062G>C NP_075598.2:p.Val688Leu
XM_006716303.2:c.2062G>C XP_006716366.1:p.Val688Leu
XM_006716304.1:c.2062G>C XP_006716367.1:p.Val688Leu
XM_006716305.2:c.2062G>C XP_006716368.1:p.Val688Leu
XM_006716306.2:c.2056G>C XP_006716369.1:p.Val686Leu
XM_006716307.1:c.2056G>C XP_006716370.1:p.Val686Leu
XM_006716309.2:c.2038G>C XP_006716372.1:p.Val680Leu
XM_006716310.2:c.1795G>C XP_006716373.1:p.Val599Leu
XM_006716311.1:c.1795G>C XP_006716374.1:p.Val599Leu
XM_006716312.1:c.1795G>C XP_006716375.1:p.Val599Leu
XM_006716313.2:c.1789G>C XP_006716376.1:p.Val597Leu
XM_006716314.1:c.1789G>C XP_006716377.1:p.Val597Leu
XM_011544443.1:c.2161G>C XP_011542745.1:p.Val721Leu
XM_011544444.1:c.2155G>C XP_011542746.1:p.Val719Leu
XM_011544445.1:c.2155G>C XP_011542747.1:p.Val719Leu
XM_011544446.1:c.2161G>C XP_011542748.1:p.Val721Leu
XM_011544447.1:c.2155G>C XP_011542749.1:p.Val719Leu
XM_011544448.1:c.1894G>C XP_011542750.1:p.Val632Leu
XM_011544449.1:c.1888G>C XP_011542751.1:p.Val630Leu
XM_011544450.1:c.1888G>C XP_011542752.1:p.Val630Leu
XM_011544451.1:c.1771G>C XP_011542753.1:p.Val591Leu
NM_001354367.1:c.2056G>C NP_001341296.1:p.Val686Leu
NM_001354368.1:c.1783G>C NP_001341297.1:p.Val595Leu
NM_001354369.1:c.2050G>C NP_001341298.1:p.Val684Leu
NM_001354370.1:c.1789G>C NP_001341299.1:p.Val597Leu
XM_006716303.3:c.2062G>C XP_006716366.1:p.Val688Leu
XM_006716310.3:c.1795G>C XP_006716373.1:p.Val599Leu
XM_006716312.2:c.1795G>C XP_006716375.1:p.Val599Leu
XM_006716314.2:c.1789G>C XP_006716377.1:p.Val597Leu
XM_011544443.2:c.2161G>C XP_011542745.1:p.Val721Leu
XM_011544445.2:c.2155G>C XP_011542747.1:p.Val719Leu
XM_011544446.2:c.2161G>C XP_011542748.1:p.Val721Leu
XM_011544447.2:c.2155G>C XP_011542749.1:p.Val719Leu
XM_011544450.2:c.1888G>C XP_011542752.1:p.Val630Leu
XM_017013219.1:c.2149G>C XP_016868708.1:p.Val717Leu
XM_017013220.1:c.2149G>C XP_016868709.1:p.Val717Leu
XM_017013221.1:c.2062G>C XP_016868710.1:p.Val688Leu
XM_017013222.2:c.2056G>C XP_016868711.1:p.Val686Leu
XM_017013224.2:c.2050G>C XP_016868713.1:p.Val684Leu
XM_017013225.2:c.2050G>C XP_016868714.1:p.Val684Leu
XM_017013226.1:c.1888G>C XP_016868715.1:p.Val630Leu
XM_017013227.1:c.1882G>C XP_016868716.1:p.Val628Leu
XM_017013229.2:c.1090G>C XP_016868718.1:p.Val364Leu
XM_017013230.1:c.1090G>C XP_016868719.1:p.Val364Leu
XM_024447097.1:c.2038G>C XP_024302865.1:p.Val680Leu
XR_001745495.1:n.2335G>C
XR_001745496.1:n.2335G>C
NM_001174063.2:c.2056G>C NP_001167534.1:p.Val686Leu
NM_001174064.2:c.2032G>C NP_001167535.1:p.Val678Leu
NM_001174065.2:c.2056G>C NP_001167536.1:p.Val686Leu
NM_001174066.2:c.1795G>C NP_001167537.1:p.Val599Leu
NM_001354368.2:c.1783G>C NP_001341297.1:p.Val595Leu
NM_015850.4:c.2056G>C NP_056934.2:p.Val686Leu
NM_023105.3:c.1795G>C NP_075593.1:p.Val599Leu
NM_023106.3:c.1789G>C NP_075594.1:p.Val597Leu
NM_023110.3:c.2062G>C MANE Select NP_075598.2:p.Val688Leu
NM_001174067.2:c.2155G>C NP_001167538.1:p.Val719Leu
NM_001354367.2:c.2056G>C NP_001341296.1:p.Val686Leu
NM_001354369.2:c.2050G>C NP_001341298.1:p.Val684Leu
NM_001354370.2:c.1789G>C NP_001341299.1:p.Val597Leu