Canonical Allele Identifier: CA737188822

Gene: C8A

Linked Data

• ClinVar Variation Id: 2967837
• ClinVar RCV Id: RCV003826499
• dbSNP Id: rs1464920776
• MyVariant Identifiers: chr1:g.57347114G>T (hg19) ; chr1:g.56881441G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56881441G>T , CM000663.2:g.56881441G>T	GRCh38
NC_000001.10:g.57347114G>T , CM000663.1:g.57347114G>T	GRCh37
NC_000001.9:g.57119702G>T	NCBI36
NG_012049.1:g.31672G>T , LRG_139:g.31672G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695676.1:n.599-2040G>T
ENST00000695677.1:c.465-4G>T	ENSP00000512097.1:n.465-4G>T
ENST00000695678.1:c.465-4G>T	ENSP00000512098.1:n.465-4G>T
ENST00000695679.1:c.465-2040G>T	ENSP00000512099.1:n.465-2040G>T
ENST00000695680.1:n.571-4G>T
ENST00000695681.1:c.465-4G>T	ENSP00000512100.1:n.465-4G>T
ENST00000695682.1:n.559-4G>T
ENST00000695683.1:n.496-4G>T
ENST00000695685.1:n.416-4G>T
ENST00000695686.1:n.67G>T
ENST00000695723.1:c.465-4G>T	ENSP00000512121.1:n.465-4G>T
ENST00000361249.4:c.465-4G>T MANE Select	ENSP00000354458.3:n.465-4G>T
ENST00000361249.3:c.465-4G>T	ENSP00000354458.3:n.465-4G>T
NM_000562.2:c.465-4G>T , LRG_139t1:c.465-4G>T	NP_000553.1:n.465-4G>T
XM_011542079.1:c.465-4G>T	XP_011540381.1:n.465-4G>T
XM_011542079.2:c.465-4G>T	XP_011540381.1:n.465-4G>T
XM_017002234.1:c.465-4G>T	XP_016857723.1:n.465-4G>T
NM_000562.3:c.465-4G>T MANE Select	NP_000553.1:n.465-4G>T