Canonical Allele Identifier: CA2676682144

Gene: FGFR4

Linked Data

• gnomAD v4: 5-177093292-C-CCCCGGGGCGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177093292_177093293insCCCGGGGCGAA , CM000667.2:g.177093292_177093293insCCCGGGGCGAA	GRCh38
NC_000005.9:g.176520293_176520294insCCCGGGGCGAA , CM000667.1:g.176520293_176520294insCCCGGGGCGAA	GRCh37
NC_000005.8:g.176452899_176452900insCCCGGGGCGAA	NCBI36
NG_012067.1:g.11373_11374insCCCGGGGCGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292408.9:c.1212_1213insCCCGGGGCGAA MANE Select	ENSP00000292408.4:p.Thr405ProfsTer?
ENST00000292408.8:c.1212_1213insCCCGGGGCGAA	ENSP00000292408.4:p.Thr405ProfsTer?
ENST00000393637.5:c.1058-40_1058-39insCCCGGGGCGAA	ENSP00000377254.1:n.1058-40_1058-39insCCCGGGGCGAA
ENST00000393648.6:c.1098-114_1098-113insCCCGGGGCGAA	ENSP00000377259.2:n.1098-114_1098-113insCCCGGGGCGAA
ENST00000502906.5:c.1212_1213insCCCGGGGCGAA	ENSP00000424960.1:p.Thr405ProfsTer?
ENST00000508139.1:n.516_517insCCCGGGGCGAA
ENST00000511076.1:c.118_119insCCCGGGGCGAA
NM_001291980.1:c.1098-114_1098-113insCCCGGGGCGAA	NP_001278909.1:n.1098-114_1098-113insCCCGGGGCGAA
NM_002011.4:c.1212_1213insCCCGGGGCGAA	NP_002002.3:p.Thr405ProfsTer?
NM_022963.3:c.1058-40_1058-39insCCCGGGGCGAA	NP_075252.2:n.1058-40_1058-39insCCCGGGGCGAA
NM_213647.2:c.1212_1213insCCCGGGGCGAA	NP_998812.1:p.Thr405ProfsTer?
XM_005265838.2:c.1212_1213insCCCGGGGCGAA	XP_005265895.1:p.Thr405ProfsTer?
XM_011534464.1:c.1305_1306insCCCGGGGCGAA	XP_011532766.1:p.Thr436ProfsTer?
XM_011534465.1:c.894_895insCCCGGGGCGAA	XP_011532767.1:p.Thr299ProfsTer?
XR_941090.1:n.1257_1258insCCCGGGGCGAA
NM_001354984.1:c.1212_1213insCCCGGGGCGAA	NP_001341913.1:p.Thr405ProfsTer?
NM_213647.3:c.1212_1213insCCCGGGGCGAA MANE Select	NP_998812.1:p.Thr405ProfsTer?
NM_001291980.2:c.1098-114_1098-113insCCCGGGGCGAA	NP_001278909.1:n.1098-114_1098-113insCCCGGGGCGAA
NM_001354984.2:c.1212_1213insCCCGGGGCGAA	NP_001341913.1:p.Thr405ProfsTer?
NM_002011.5:c.1212_1213insCCCGGGGCGAA	NP_002002.3:p.Thr405ProfsTer?