Canonical Allele Identifier: CA564898818

Gene: FGFR4

Linked Data

• dbSNP Id: rs1223687213
• gnomAD v2: 5-176522543-A-ACGTGATCGTGGAGTG
• gnomAD v4: 5-177095542-A-ACGTGATCGTGGAGTG
• MyVariant Identifiers: chr5:g.176522543_176522544insCGTGATCGTGGAGTG (hg19) ; chr5:g.177095542_177095543insCGTGATCGTGGAGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177095545_177095559dup , CM000667.2:g.177095545_177095559dup	GRCh38
NC_000005.9:g.176522546_176522560dup , CM000667.1:g.176522546_176522560dup	GRCh37
NC_000005.8:g.176455152_176455166dup	NCBI36
NG_012067.1:g.13626_13640dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000292408.9:c.1643_1657dup MANE Select	ENSP00000292408.4:p.Cys552_Ala553insValIl...
ENST00000292408.8:c.1643_1657dup	ENSP00000292408.4:p.Cys552_Ala553insValIl...
ENST00000393637.5:c.1523_1537dup	ENSP00000377254.1:p.Cys512_Ala513insValIl...
ENST00000393648.6:c.1439_1453dup	ENSP00000377259.2:p.Cys484_Ala485insValIl...
ENST00000483872.2:n.629_643dup
ENST00000502906.5:c.1643_1657dup	ENSP00000424960.1:p.Cys552_Ala553insValIl...
ENST00000511076.1:c.537_551dup
NM_001291980.1:c.1439_1453dup	NP_001278909.1:p.Cys484_Ala485insValIleVa...
NM_002011.4:c.1643_1657dup	NP_002002.3:p.Cys552_Ala553insValIleValGl...
NM_022963.3:c.1523_1537dup	NP_075252.2:p.Cys512_Ala513insValIleValGl...
NM_213647.2:c.1643_1657dup	NP_998812.1:p.Cys552_Ala553insValIleValGl...
XM_005265838.2:c.1643_1657dup	XP_005265895.1:p.Cys552_Ala553insValIleVa...
XM_011534464.1:c.1736_1750dup	XP_011532766.1:p.Cys583_Ala584insValIleVa...
XM_011534465.1:c.1325_1339dup	XP_011532767.1:p.Cys446_Ala447insValIleVa...
XR_941090.1:n.1638_1652dup
NM_001354984.1:c.1643_1657dup	NP_001341913.1:p.Cys552_Ala553insValIleVa...
NM_213647.3:c.1643_1657dup MANE Select	NP_998812.1:p.Cys552_Ala553insValIleValGl...
NM_001291980.2:c.1439_1453dup	NP_001278909.1:p.Cys484_Ala485insValIleVa...
NM_001354984.2:c.1643_1657dup	NP_001341913.1:p.Cys552_Ala553insValIleVa...
NM_002011.5:c.1643_1657dup	NP_002002.3:p.Cys552_Ala553insValIleValGl...