Canonical Allele Identifier: CA2676682057

Gene: FGFR4

Linked Data

• gnomAD v4: 5-177093198-ACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093201_177093202del , CM000667.2:g.177093201_177093202del	GRCh38
NC_000005.9:g.176520202_176520203del , CM000667.1:g.176520202_176520203del	GRCh37
NC_000005.8:g.176452808_176452809del	NCBI36
NG_012067.1:g.11282_11283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.1121_1122del MANE Select	ENSP00000292408.4:p.Ala374ValfsTer?
ENST00000292408.8:c.1121_1122del	ENSP00000292408.4:p.Ala374ValfsTer?
ENST00000393637.5:c.1058-131_1058-130del	ENSP00000377254.1:n.1058-131_1058-130del
ENST00000393648.6:c.1097+24_1097+25del	ENSP00000377259.2:n.1097+24_1097+25del
ENST00000502906.5:c.1121_1122del	ENSP00000424960.1:p.Ala374ValfsTer?
ENST00000508139.1:n.425_426del
ENST00000511076.1:c.27_28del
NM_001291980.1:c.1097+24_1097+25del	NP_001278909.1:n.1097+24_1097+25del
NM_002011.4:c.1121_1122del	NP_002002.3:p.Ala374ValfsTer?
NM_022963.3:c.1058-131_1058-130del	NP_075252.2:n.1058-131_1058-130del
NM_213647.2:c.1121_1122del	NP_998812.1:p.Ala374ValfsTer?
XM_005265838.2:c.1121_1122del	XP_005265895.1:p.Ala374ValfsTer?
XM_011534464.1:c.1214_1215del	XP_011532766.1:p.Ala405ValfsTer?
XM_011534465.1:c.803_804del	XP_011532767.1:p.Ala268ValfsTer?
XR_941090.1:n.1166_1167del
NM_001354984.1:c.1121_1122del	NP_001341913.1:p.Ala374ValfsTer?
NM_213647.3:c.1121_1122del MANE Select	NP_998812.1:p.Ala374ValfsTer?
NM_001291980.2:c.1097+24_1097+25del	NP_001278909.1:n.1097+24_1097+25del
NM_001354984.2:c.1121_1122del	NP_001341913.1:p.Ala374ValfsTer?
NM_002011.5:c.1121_1122del	NP_002002.3:p.Ala374ValfsTer?