Canonical Allele Identifier: CA340510871

Gene: C8A

Linked Data

• ClinVar Variation Id: 2102582
• ClinVar RCV Id: RCV003019583
• gnomAD v4: 1-56867662-G-A
• MyVariant Identifiers: chr1:g.57333335G>A (hg19) ; chr1:g.56867662G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56867662G>A , CM000663.2:g.56867662G>A	GRCh38
NC_000001.10:g.57333335G>A , CM000663.1:g.57333335G>A	GRCh37
NC_000001.9:g.57105923G>A	NCBI36
NG_012049.1:g.17893G>A , LRG_139:g.17893G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695676.1:n.265G>A
ENST00000695677.1:c.131G>A	ENSP00000512097.1:p.Trp44Ter
ENST00000695678.1:c.131G>A	ENSP00000512098.1:p.Trp44Ter
ENST00000695679.1:c.131G>A	ENSP00000512099.1:p.Trp44Ter
ENST00000695680.1:n.237G>A
ENST00000695681.1:c.131G>A	ENSP00000512100.1:p.Trp44Ter
ENST00000695682.1:n.225G>A
ENST00000695683.1:n.215G>A
ENST00000695684.1:n.82G>A
ENST00000695685.1:n.82G>A
ENST00000695723.1:c.131G>A	ENSP00000512121.1:p.Trp44Ter
ENST00000361249.4:c.131G>A MANE Select	ENSP00000354458.3:p.Trp44Ter
ENST00000361249.3:c.131G>A	ENSP00000354458.3:p.Trp44Ter
NM_000562.2:c.131G>A , LRG_139t1:c.131G>A	NP_000553.1:p.Trp44Ter
XM_011542079.1:c.131G>A	XP_011540381.1:p.Trp44Ter
XM_011542079.2:c.131G>A	XP_011540381.1:p.Trp44Ter
XM_017002234.1:c.131G>A	XP_016857723.1:p.Trp44Ter
NM_000562.3:c.131G>A MANE Select	NP_000553.1:p.Trp44Ter