Canonical Allele Identifier: CA2578494353

Gene: FGFR4

Linked Data

• gnomAD v4: 5-177093536-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093537del , CM000667.2:g.177093537del	GRCh38
NC_000005.9:g.176520538del , CM000667.1:g.176520538del	GRCh37
NC_000005.8:g.176453144del	NCBI36
NG_012067.1:g.11618del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.1383del MANE Select	ENSP00000292408.4:p.Glu461AspfsTer13
ENST00000292408.8:c.1383del	ENSP00000292408.4:p.Glu461AspfsTer13
ENST00000393637.5:c.1263del	ENSP00000377254.1:p.Glu421AspfsTer13
ENST00000393648.6:c.1193+36del	ENSP00000377259.2:n.1193+36del
ENST00000502906.5:c.1383del	ENSP00000424960.1:p.Glu461AspfsTer13
ENST00000511076.1:c.277del
NM_001291980.1:c.1193+36del	NP_001278909.1:n.1193+36del
NM_002011.4:c.1383del	NP_002002.3:p.Glu461AspfsTer13
NM_022963.3:c.1263del	NP_075252.2:p.Glu421AspfsTer13
NM_213647.2:c.1383del	NP_998812.1:p.Glu461AspfsTer13
XM_005265838.2:c.1383del	XP_005265895.1:p.Glu461AspfsTer13
XM_011534464.1:c.1476del	XP_011532766.1:p.Glu492AspfsTer13
XM_011534465.1:c.1065del	XP_011532767.1:p.Glu355AspfsTer13
XR_941090.1:n.1392+36del
NM_001354984.1:c.1383del	NP_001341913.1:p.Glu461AspfsTer13
NM_213647.3:c.1383del MANE Select	NP_998812.1:p.Glu461AspfsTer13
NM_001291980.2:c.1193+36del	NP_001278909.1:n.1193+36del
NM_001354984.2:c.1383del	NP_001341913.1:p.Glu461AspfsTer13
NM_002011.5:c.1383del	NP_002002.3:p.Glu461AspfsTer13