Canonical Allele Identifier: CA3576287

Gene: FGFR4

Linked Data

• dbSNP Id: rs778316288
• ExAC: 5:176520233 G / C
• gnomAD v2: 5-176520233-G-C
• gnomAD v4: 5-177093232-G-C
• MyVariant Identifiers: chr5:g.176520233G>C (hg19) ; chr5:g.177093232G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093232G>C , CM000667.2:g.177093232G>C	GRCh38
NC_000005.9:g.176520233G>C , CM000667.1:g.176520233G>C	GRCh37
NC_000005.8:g.176452839G>C	NCBI36
NG_012067.1:g.11313G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.1152G>C MANE Select	ENSP00000292408.4:p.Leu384=
ENST00000292408.8:c.1152G>C	ENSP00000292408.4:p.Leu384=
ENST00000393637.5:c.1058-100G>C	ENSP00000377254.1:n.1058-100G>C
ENST00000393648.6:c.1097+55G>C	ENSP00000377259.2:n.1097+55G>C
ENST00000502906.5:c.1152G>C	ENSP00000424960.1:p.Leu384=
ENST00000508139.1:n.456G>C
ENST00000511076.1:c.58G>C
NM_001291980.1:c.1097+55G>C	NP_001278909.1:n.1097+55G>C
NM_002011.4:c.1152G>C	NP_002002.3:p.Leu384=
NM_022963.3:c.1058-100G>C	NP_075252.2:n.1058-100G>C
NM_213647.2:c.1152G>C	NP_998812.1:p.Leu384=
XM_005265838.2:c.1152G>C	XP_005265895.1:p.Leu384=
XM_011534464.1:c.1245G>C	XP_011532766.1:p.Leu415=
XM_011534465.1:c.834G>C	XP_011532767.1:p.Leu278=
XR_941090.1:n.1197G>C
NM_001354984.1:c.1152G>C	NP_001341913.1:p.Leu384=
NM_213647.3:c.1152G>C MANE Select	NP_998812.1:p.Leu384=
NM_001291980.2:c.1097+55G>C	NP_001278909.1:n.1097+55G>C
NM_001354984.2:c.1152G>C	NP_001341913.1:p.Leu384=
NM_002011.5:c.1152G>C	NP_002002.3:p.Leu384=