Canonical Allele Identifier: CA2676682141

Gene: FGFR4

Linked Data

• gnomAD v4: 5-177093292-C-CCCCCTGGCGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093292_177093293insCCCCTGGCGAA , CM000667.2:g.177093292_177093293insCCCCTGGCGAA	GRCh38
NC_000005.9:g.176520293_176520294insCCCCTGGCGAA , CM000667.1:g.176520293_176520294insCCCCTGGCGAA	GRCh37
NC_000005.8:g.176452899_176452900insCCCCTGGCGAA	NCBI36
NG_012067.1:g.11373_11374insCCCCTGGCGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.1212_1213insCCCCTGGCGAA MANE Select	ENSP00000292408.4:p.Thr405ProfsTer?
ENST00000292408.8:c.1212_1213insCCCCTGGCGAA	ENSP00000292408.4:p.Thr405ProfsTer?
ENST00000393637.5:c.1058-40_1058-39insCCCCTGGCGAA	ENSP00000377254.1:n.1058-40_1058-39insCCCCTGGCGAA
ENST00000393648.6:c.1098-114_1098-113insCCCCTGGCGAA	ENSP00000377259.2:n.1098-114_1098-113insCCCCTGGCGAA
ENST00000502906.5:c.1212_1213insCCCCTGGCGAA	ENSP00000424960.1:p.Thr405ProfsTer?
ENST00000508139.1:n.516_517insCCCCTGGCGAA
ENST00000511076.1:c.118_119insCCCCTGGCGAA
NM_001291980.1:c.1098-114_1098-113insCCCCTGGCGAA	NP_001278909.1:n.1098-114_1098-113insCCCCTGGCGAA
NM_002011.4:c.1212_1213insCCCCTGGCGAA	NP_002002.3:p.Thr405ProfsTer?
NM_022963.3:c.1058-40_1058-39insCCCCTGGCGAA	NP_075252.2:n.1058-40_1058-39insCCCCTGGCGAA
NM_213647.2:c.1212_1213insCCCCTGGCGAA	NP_998812.1:p.Thr405ProfsTer?
XM_005265838.2:c.1212_1213insCCCCTGGCGAA	XP_005265895.1:p.Thr405ProfsTer?
XM_011534464.1:c.1305_1306insCCCCTGGCGAA	XP_011532766.1:p.Thr436ProfsTer?
XM_011534465.1:c.894_895insCCCCTGGCGAA	XP_011532767.1:p.Thr299ProfsTer?
XR_941090.1:n.1257_1258insCCCCTGGCGAA
NM_001354984.1:c.1212_1213insCCCCTGGCGAA	NP_001341913.1:p.Thr405ProfsTer?
NM_213647.3:c.1212_1213insCCCCTGGCGAA MANE Select	NP_998812.1:p.Thr405ProfsTer?
NM_001291980.2:c.1098-114_1098-113insCCCCTGGCGAA	NP_001278909.1:n.1098-114_1098-113insCCCCTGGCGAA
NM_001354984.2:c.1212_1213insCCCCTGGCGAA	NP_001341913.1:p.Thr405ProfsTer?
NM_002011.5:c.1212_1213insCCCCTGGCGAA	NP_002002.3:p.Thr405ProfsTer?