Canonical Allele Identifier: CA447959130
Gene: FGFR4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.176524539C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177097538C>A , CM000667.2:g.177097538C>A GRCh38
NC_000005.9:g.176524539C>A , CM000667.1:g.176524539C>A GRCh37
NC_000005.8:g.176457145C>A NCBI36
NG_012067.1:g.15619C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000292408.9:c.2271C>A MANE Select ENSP00000292408.4:p.Leu757=
ENST00000292408.8:c.2271C>A ENSP00000292408.4:p.Leu757=
ENST00000393637.5:c.2151C>A ENSP00000377254.1:p.Leu717=
ENST00000393648.6:c.2067C>A ENSP00000377259.2:p.Leu689=
ENST00000502906.5:c.2271C>A ENSP00000424960.1:p.Leu757=
ENST00000513423.1:n.219C>A
NM_001291980.1:c.2067C>A NP_001278909.1:p.Leu689=
NM_002011.4:c.2271C>A NP_002002.3:p.Leu757=
NM_022963.3:c.2151C>A NP_075252.2:p.Leu717=
NM_213647.2:c.2271C>A NP_998812.1:p.Leu757=
XM_005265838.2:c.2271C>A XP_005265895.1:p.Leu757=
XM_011534464.1:c.2364C>A XP_011532766.1:p.Leu788=
XM_011534465.1:c.1953C>A XP_011532767.1:p.Leu651=
NM_001354984.1:c.2271C>A NP_001341913.1:p.Leu757=
NM_213647.3:c.2271C>A MANE Select NP_998812.1:p.Leu757=
NM_001291980.2:c.2067C>A NP_001278909.1:p.Leu689=
NM_001354984.2:c.2271C>A NP_001341913.1:p.Leu757=
NM_002011.5:c.2271C>A NP_002002.3:p.Leu757=