Canonical Allele Identifier: CA3575993

Gene: FGFR4

Linked Data

• dbSNP Id: rs761002255
• ExAC: 5:176517821 A / T
• gnomAD v2: 5-176517821-A-T
• MyVariant Identifiers: chr5:g.176517821A>T (hg19) ; chr5:g.177090820A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177090820A>T , CM000667.2:g.177090820A>T	GRCh38
NC_000005.9:g.176517821A>T , CM000667.1:g.176517821A>T	GRCh37
NC_000005.8:g.176450427A>T	NCBI36
NG_012067.1:g.8901A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.431A>T MANE Select	ENSP00000292408.4:p.Gln144Leu
ENST00000292408.8:c.431A>T	ENSP00000292408.4:p.Gln144Leu
ENST00000393637.5:c.431A>T	ENSP00000377254.1:p.Gln144Leu
ENST00000393648.6:c.431A>T	ENSP00000377259.2:p.Gln144Leu
ENST00000426612.5:n.436A>T
ENST00000430285.5:c.*295A>T	ENSP00000395164.1:n.*295A>T
ENST00000502906.5:c.431A>T	ENSP00000424960.1:p.Gln144Leu
ENST00000503708.5:c.431A>T	ENSP00000424905.1:p.Gln144Leu
ENST00000509511.5:n.431A>T
NM_001291980.1:c.431A>T	NP_001278909.1:p.Gln144Leu
NM_002011.4:c.431A>T	NP_002002.3:p.Gln144Leu
NM_022963.3:c.431A>T	NP_075252.2:p.Gln144Leu
NM_213647.2:c.431A>T	NP_998812.1:p.Gln144Leu
XM_005265838.2:c.431A>T	XP_005265895.1:p.Gln144Leu
XM_011534464.1:c.524A>T	XP_011532766.1:p.Gln175Leu
XM_011534465.1:c.113A>T	XP_011532767.1:p.Gln38Leu
XR_941090.1:n.476A>T
NM_001354984.1:c.431A>T	NP_001341913.1:p.Gln144Leu
NM_213647.3:c.431A>T MANE Select	NP_998812.1:p.Gln144Leu
NM_001291980.2:c.431A>T	NP_001278909.1:p.Gln144Leu
NM_001354984.2:c.431A>T	NP_001341913.1:p.Gln144Leu
NM_002011.5:c.431A>T	NP_002002.3:p.Gln144Leu