Canonical Allele Identifier: CA132829443

Gene: FGFR4

Linked Data

• ClinVar Variation Id: 2310539
• ClinVar RCV Id: RCV002879939
• dbSNP Id: rs897462348
• gnomAD v2: 5-176520261-G-A
• gnomAD v4: 5-177093260-G-A
• MyVariant Identifiers: chr5:g.176520261G>A (hg19) ; chr5:g.177093260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093260G>A , CM000667.2:g.177093260G>A	GRCh38
NC_000005.9:g.176520261G>A , CM000667.1:g.176520261G>A	GRCh37
NC_000005.8:g.176452867G>A	NCBI36
NG_012067.1:g.11341G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000292408.9:c.1180G>A MANE Select	ENSP00000292408.4:p.Ala394Thr
ENST00000292408.8:c.1180G>A	ENSP00000292408.4:p.Ala394Thr
ENST00000393637.5:c.1058-72G>A	ENSP00000377254.1:n.1058-72G>A
ENST00000393648.6:c.1097+83G>A	ENSP00000377259.2:n.1097+83G>A
ENST00000502906.5:c.1180G>A	ENSP00000424960.1:p.Ala394Thr
ENST00000508139.1:n.484G>A
ENST00000511076.1:c.86G>A
NM_001291980.1:c.1097+83G>A	NP_001278909.1:n.1097+83G>A
NM_002011.4:c.1180G>A	NP_002002.3:p.Ala394Thr
NM_022963.3:c.1058-72G>A	NP_075252.2:n.1058-72G>A
NM_213647.2:c.1180G>A	NP_998812.1:p.Ala394Thr
XM_005265838.2:c.1180G>A	XP_005265895.1:p.Ala394Thr
XM_011534464.1:c.1273G>A	XP_011532766.1:p.Ala425Thr
XM_011534465.1:c.862G>A	XP_011532767.1:p.Ala288Thr
XR_941090.1:n.1225G>A
NM_001354984.1:c.1180G>A	NP_001341913.1:p.Ala394Thr
NM_213647.3:c.1180G>A MANE Select	NP_998812.1:p.Ala394Thr
NM_001291980.2:c.1097+83G>A	NP_001278909.1:n.1097+83G>A
NM_001354984.2:c.1180G>A	NP_001341913.1:p.Ala394Thr
NM_002011.5:c.1180G>A	NP_002002.3:p.Ala394Thr