Canonical Allele Identifier: CA1777533842
Gene: FGFR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38414211A= , CM000670.2:g.38414211A= GRCh38
NC_000008.10:g.38271729A= , CM000670.1:g.38271729A= GRCh37
NC_000008.9:g.38390886A= NCBI36
NG_007729.1:g.59624T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000703405.1:c.2127T= ENSP00000515291.1:p.Leu709=
ENST00000341462.9:c.2115T= ENSP00000340636.7:p.Leu705=
ENST00000425967.8:c.2115T= ENSP00000393312.4:p.Leu705=
ENST00000524528.2:n.3020T=
ENST00000682398.1:n.1367T=
ENST00000683132.1:n.817T=
ENST00000683765.1:c.2307T= ENSP00000507039.1:p.Leu769=
ENST00000683815.1:c.2115T= ENSP00000507997.1:p.Leu705=
ENST00000683948.1:n.2815T=
ENST00000684654.1:c.1848T= ENSP00000507205.1:p.Leu616=
ENST00000447712.7:c.2127T= MANE Select ENSP00000400162.2:p.Leu709=
ENST00000649678.1:c.2115T= ENSP00000497266.1:p.Leu705=
ENST00000674189.1:c.*1773T= ENSP00000501345.1:n.*1773T=
ENST00000674380.1:c.*2094T= ENSP00000501514.1:n.*2094T=
ENST00000674474.1:n.3621T=
ENST00000326324.10:c.1854T= ENSP00000327229.6:p.Leu618=
ENST00000335922.9:c.2097T= ENSP00000337247.5:p.Leu699=
ENST00000341462.8:c.*1177T= ENSP00000340636.6:n.*1177T=
ENST00000356207.9:c.1860T= ENSP00000348537.5:p.Leu620=
ENST00000397091.9:c.2121T= ENSP00000380280.5:p.Leu707=
ENST00000397103.5:c.1860T= ENSP00000380292.1:p.Leu620=
ENST00000397108.8:c.2121T= ENSP00000380297.4:p.Leu707=
ENST00000397113.6:c.2121T= ENSP00000380302.2:p.Leu707=
ENST00000425967.7:c.2220T= ENSP00000393312.3:p.Leu740=
ENST00000447712.6:c.2127T= ENSP00000400162.2:p.Leu709=
ENST00000526570.5:n.4406T=
ENST00000531196.5:c.327T= ENSP00000434800.1:p.Leu109=
ENST00000532791.5:c.2121T= ENSP00000432972.1:p.Leu707=
ENST00000619564.3:c.*1022T= ENSP00000484553.1:n.*1022T=
NM_001174063.1:c.2121T= NP_001167534.1:p.Leu707=
NM_001174064.1:c.2097T= NP_001167535.1:p.Leu699=
NM_001174065.1:c.2121T= NP_001167536.1:p.Leu707=
NM_001174066.1:c.1860T= NP_001167537.1:p.Leu620=
NM_001174067.1:c.2220T= NP_001167538.1:p.Leu740=
NM_015850.3:c.2121T= NP_056934.2:p.Leu707=
NM_023105.2:c.1860T= NP_075593.1:p.Leu620=
NM_023106.2:c.1854T= NP_075594.1:p.Leu618=
NM_023110.2:c.2127T= NP_075598.2:p.Leu709=
XM_006716303.2:c.2127T= XP_006716366.1:p.Leu709=
XM_006716304.1:c.2127T= XP_006716367.1:p.Leu709=
XM_006716305.2:c.2127T= XP_006716368.1:p.Leu709=
XM_006716306.2:c.2121T= XP_006716369.1:p.Leu707=
XM_006716307.1:c.2121T= XP_006716370.1:p.Leu707=
XM_006716309.2:c.2103T= XP_006716372.1:p.Leu701=
XM_006716310.2:c.1860T= XP_006716373.1:p.Leu620=
XM_006716311.1:c.1860T= XP_006716374.1:p.Leu620=
XM_006716312.1:c.1860T= XP_006716375.1:p.Leu620=
XM_006716313.2:c.1854T= XP_006716376.1:p.Leu618=
XM_006716314.1:c.1854T= XP_006716377.1:p.Leu618=
XM_011544443.1:c.2226T= XP_011542745.1:p.Leu742=
XM_011544444.1:c.2220T= XP_011542746.1:p.Leu740=
XM_011544445.1:c.2220T= XP_011542747.1:p.Leu740=
XM_011544446.1:c.2226T= XP_011542748.1:p.Leu742=
XM_011544447.1:c.2220T= XP_011542749.1:p.Leu740=
XM_011544448.1:c.1959T= XP_011542750.1:p.Leu653=
XM_011544449.1:c.1953T= XP_011542751.1:p.Leu651=
XM_011544450.1:c.1953T= XP_011542752.1:p.Leu651=
XM_011544451.1:c.1836T= XP_011542753.1:p.Leu612=
NM_001354367.1:c.2121T= NP_001341296.1:p.Leu707=
NM_001354368.1:c.1848T= NP_001341297.1:p.Leu616=
NM_001354369.1:c.2115T= NP_001341298.1:p.Leu705=
NM_001354370.1:c.1854T= NP_001341299.1:p.Leu618=
XM_006716303.3:c.2127T= XP_006716366.1:p.Leu709=
XM_006716310.3:c.1860T= XP_006716373.1:p.Leu620=
XM_006716312.2:c.1860T= XP_006716375.1:p.Leu620=
XM_006716314.2:c.1854T= XP_006716377.1:p.Leu618=
XM_011544443.2:c.2226T= XP_011542745.1:p.Leu742=
XM_011544445.2:c.2220T= XP_011542747.1:p.Leu740=
XM_011544446.2:c.2226T= XP_011542748.1:p.Leu742=
XM_011544447.2:c.2220T= XP_011542749.1:p.Leu740=
XM_011544450.2:c.1953T= XP_011542752.1:p.Leu651=
XM_017013219.1:c.2214T= XP_016868708.1:p.Leu738=
XM_017013220.1:c.2214T= XP_016868709.1:p.Leu738=
XM_017013221.1:c.2127T= XP_016868710.1:p.Leu709=
XM_017013222.2:c.2121T= XP_016868711.1:p.Leu707=
XM_017013224.2:c.2115T= XP_016868713.1:p.Leu705=
XM_017013225.2:c.2115T= XP_016868714.1:p.Leu705=
XM_017013226.1:c.1953T= XP_016868715.1:p.Leu651=
XM_017013227.1:c.1947T= XP_016868716.1:p.Leu649=
XM_017013229.2:c.1155T= XP_016868718.1:p.Leu385=
XM_017013230.1:c.1155T= XP_016868719.1:p.Leu385=
XM_024447097.1:c.2103T= XP_024302865.1:p.Leu701=
XR_001745495.1:n.2400T=
XR_001745496.1:n.2400T=
NM_001174063.2:c.2121T= NP_001167534.1:p.Leu707=
NM_001174064.2:c.2097T= NP_001167535.1:p.Leu699=
NM_001174065.2:c.2121T= NP_001167536.1:p.Leu707=
NM_001174066.2:c.1860T= NP_001167537.1:p.Leu620=
NM_001354368.2:c.1848T= NP_001341297.1:p.Leu616=
NM_015850.4:c.2121T= NP_056934.2:p.Leu707=
NM_023105.3:c.1860T= NP_075593.1:p.Leu620=
NM_023106.3:c.1854T= NP_075594.1:p.Leu618=
NM_023110.3:c.2127T= MANE Select NP_075598.2:p.Leu709=
NM_001174067.2:c.2220T= NP_001167538.1:p.Leu740=
NM_001354367.2:c.2121T= NP_001341296.1:p.Leu707=
NM_001354369.2:c.2115T= NP_001341298.1:p.Leu705=
NM_001354370.2:c.1854T= NP_001341299.1:p.Leu618=