Canonical Allele Identifier: CA362299832
Gene: FGFR4 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177097599A>C , CM000667.2:g.177097599A>C GRCh38
NC_000005.9:g.176524600A>C , CM000667.1:g.176524600A>C GRCh37
NC_000005.8:g.176457206A>C NCBI36
NG_012067.1:g.15680A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000292408.9:c.2332A>C MANE Select ENSP00000292408.4:p.Ser778Arg
ENST00000292408.8:c.2332A>C ENSP00000292408.4:p.Ser778Arg
ENST00000393637.5:c.2212A>C ENSP00000377254.1:p.Ser738Arg
ENST00000393648.6:c.2128A>C ENSP00000377259.2:p.Ser710Arg
ENST00000502906.5:c.2332A>C ENSP00000424960.1:p.Ser778Arg
ENST00000513423.1:n.280A>C
NM_001291980.1:c.2128A>C NP_001278909.1:p.Ser710Arg
NM_002011.4:c.2332A>C NP_002002.3:p.Ser778Arg
NM_022963.3:c.2212A>C NP_075252.2:p.Ser738Arg
NM_213647.2:c.2332A>C NP_998812.1:p.Ser778Arg
XM_005265838.2:c.2332A>C XP_005265895.1:p.Ser778Arg
XM_011534464.1:c.2425A>C XP_011532766.1:p.Ser809Arg
XM_011534465.1:c.2014A>C XP_011532767.1:p.Ser672Arg
NM_001354984.1:c.2332A>C NP_001341913.1:p.Ser778Arg
NM_213647.3:c.2332A>C MANE Select NP_998812.1:p.Ser778Arg
NM_001291980.2:c.2128A>C NP_001278909.1:p.Ser710Arg
NM_001354984.2:c.2332A>C NP_001341913.1:p.Ser778Arg
NM_002011.5:c.2332A>C NP_002002.3:p.Ser778Arg