Canonical Allele Identifier: CA175775869
Community Standard Title: NM_023110.3(FGFR1):c.-578A>C
Gene: FGFR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38468470T>G , CM000670.2:g.38468470T>G GRCh38
NC_000008.10:g.38325988T>G , CM000670.1:g.38325988T>G GRCh37
NC_000008.9:g.38445145T>G NCBI36
NG_007729.1:g.5365A>C

Transcript Alleles

HGVS Amino-acid Change
NM_023110.3:c.-578A>C MANE Select NP_075598.2:n.-578A>C
ENST00000447712.7:c.-578A>C MANE Select ENSP00000400162.2:n.-578A>C
NM_001174063.1:c.-578A>C NP_001167534.1:n.-578A>C
NM_001174063.2:c.-578A>C NP_001167534.1:n.-578A>C
NM_001174064.1:c.-670A>C NP_001167535.1:n.-670A>C
NM_001174064.2:c.-670A>C NP_001167535.1:n.-670A>C
NM_001354367.1:c.-578A>C NP_001341296.1:n.-578A>C
NM_001354367.2:c.-578A>C NP_001341296.1:n.-578A>C
NM_001354368.1:c.-578A>C NP_001341297.1:n.-578A>C
NM_001354368.2:c.-578A>C NP_001341297.1:n.-578A>C
NM_001354370.1:c.-578A>C NP_001341299.1:n.-578A>C
NM_001354370.2:c.-578A>C NP_001341299.1:n.-578A>C
NM_015850.3:c.-578A>C NP_056934.2:n.-578A>C
NM_015850.4:c.-578A>C NP_056934.2:n.-578A>C
NM_023105.2:c.-578A>C NP_075593.1:n.-578A>C
NM_023105.3:c.-578A>C NP_075593.1:n.-578A>C
NM_023106.2:c.-578A>C NP_075594.1:n.-578A>C
NM_023106.3:c.-578A>C NP_075594.1:n.-578A>C
NM_023110.2:c.-578A>C NP_075598.2:n.-578A>C
ENST00000326324.10:c.-578A>C ENSP00000327229.6:n.-578A>C
ENST00000335922.9:c.-670A>C ENSP00000337247.5:n.-670A>C
ENST00000341462.8:c.-578A>C ENSP00000340636.6:n.-578A>C
ENST00000341462.9:c.-578A>C ENSP00000340636.7:n.-578A>C
ENST00000356207.9:c.-578A>C ENSP00000348537.5:n.-578A>C
ENST00000397091.9:c.-578A>C ENSP00000380280.5:n.-578A>C
ENST00000447712.6:c.-578A>C ENSP00000400162.2:n.-578A>C
ENST00000496296.5:n.166A>C
ENST00000532791.5:c.-578A>C ENSP00000432972.1:n.-578A>C
ENST00000619564.3:c.-578A>C ENSP00000484553.1:n.-578A>C
ENST00000683276.1:n.132A>C
ENST00000683765.1:c.-578A>C ENSP00000507039.1:n.-578A>C
ENST00000683795.1:n.132A>C
ENST00000683815.1:c.-578A>C ENSP00000507997.1:n.-578A>C
ENST00000683948.1:n.132A>C
ENST00000684654.1:c.-578A>C ENSP00000507205.1:n.-578A>C
ENST00000703405.1:c.-578A>C ENSP00000515291.1:n.-578A>C
XM_006716303.2:c.-578A>C XP_006716366.1:n.-578A>C
XM_006716303.3:c.-578A>C XP_006716366.1:n.-578A>C
XM_006716306.2:c.-578A>C XP_006716369.1:n.-578A>C
XM_006716310.2:c.-578A>C XP_006716373.1:n.-578A>C
XM_006716310.3:c.-578A>C XP_006716373.1:n.-578A>C
XM_006716313.2:c.-578A>C XP_006716376.1:n.-578A>C
XM_017013224.2:c.-578A>C XP_016868713.1:n.-578A>C