Canonical Allele Identifier: CA447724576

Gene: FGFR4

Linked Data

• dbSNP Id: rs1171622730
• gnomAD v2: 5-176518048-C-T
• gnomAD v4: 5-177091047-C-T
• MyVariant Identifiers: chr5:g.176518048C>T (hg19) ; chr5:g.177091047C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177091047C>T , CM000667.2:g.177091047C>T	GRCh38
NC_000005.9:g.176518048C>T , CM000667.1:g.176518048C>T	GRCh37
NC_000005.8:g.176450654C>T	NCBI36
NG_012067.1:g.9128C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.546C>T MANE Select	ENSP00000292408.4:p.Ile182=
ENST00000292408.8:c.546C>T	ENSP00000292408.4:p.Ile182=
ENST00000393637.5:c.546C>T	ENSP00000377254.1:p.Ile182=
ENST00000393648.6:c.546C>T	ENSP00000377259.2:p.Ile182=
ENST00000426612.5:n.663C>T
ENST00000430285.5:c.*410C>T	ENSP00000395164.1:n.*410C>T
ENST00000502906.5:c.546C>T	ENSP00000424960.1:p.Ile182=
ENST00000503708.5:c.546C>T	ENSP00000424905.1:p.Ile182=
ENST00000509511.5:n.546C>T
NM_001291980.1:c.546C>T	NP_001278909.1:p.Ile182=
NM_002011.4:c.546C>T	NP_002002.3:p.Ile182=
NM_022963.3:c.546C>T	NP_075252.2:p.Ile182=
NM_213647.2:c.546C>T	NP_998812.1:p.Ile182=
XM_005265838.2:c.546C>T	XP_005265895.1:p.Ile182=
XM_011534464.1:c.639C>T	XP_011532766.1:p.Ile213=
XM_011534465.1:c.228C>T	XP_011532767.1:p.Ile76=
XR_941090.1:n.591C>T
NM_001354984.1:c.546C>T	NP_001341913.1:p.Ile182=
NM_213647.3:c.546C>T MANE Select	NP_998812.1:p.Ile182=
NM_001291980.2:c.546C>T	NP_001278909.1:p.Ile182=
NM_001354984.2:c.546C>T	NP_001341913.1:p.Ile182=
NM_002011.5:c.546C>T	NP_002002.3:p.Ile182=