Canonical Allele Identifier: CA875055

Gene: C8A

Linked Data

• ClinVar Variation Id: 1485376
• ClinVar RCV Id: RCV002008617
• dbSNP Id: rs558262759
• ExAC: 1:57347113 T / C
• gnomAD v2: 1-57347113-T-C
• gnomAD v3: 1-56881440-T-C
• gnomAD v4: 1-56881440-T-C
• MyVariant Identifiers: chr1:g.57347113T>C (hg19) ; chr1:g.56881440T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.56881440T>C , CM000663.2:g.56881440T>C	GRCh38
NC_000001.10:g.57347113T>C , CM000663.1:g.57347113T>C	GRCh37
NC_000001.9:g.57119701T>C	NCBI36
NG_012049.1:g.31671T>C , LRG_139:g.31671T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695676.1:n.599-2041T>C
ENST00000695677.1:c.465-5T>C	ENSP00000512097.1:n.465-5T>C
ENST00000695678.1:c.465-5T>C	ENSP00000512098.1:n.465-5T>C
ENST00000695679.1:c.465-2041T>C	ENSP00000512099.1:n.465-2041T>C
ENST00000695680.1:n.571-5T>C
ENST00000695681.1:c.465-5T>C	ENSP00000512100.1:n.465-5T>C
ENST00000695682.1:n.559-5T>C
ENST00000695683.1:n.496-5T>C
ENST00000695685.1:n.416-5T>C
ENST00000695686.1:n.66T>C
ENST00000695723.1:c.465-5T>C	ENSP00000512121.1:n.465-5T>C
ENST00000361249.4:c.465-5T>C MANE Select	ENSP00000354458.3:n.465-5T>C
ENST00000361249.3:c.465-5T>C	ENSP00000354458.3:n.465-5T>C
NM_000562.2:c.465-5T>C , LRG_139t1:c.465-5T>C	NP_000553.1:n.465-5T>C
XM_011542079.1:c.465-5T>C	XP_011540381.1:n.465-5T>C
XM_011542079.2:c.465-5T>C	XP_011540381.1:n.465-5T>C
XM_017002234.1:c.465-5T>C	XP_016857723.1:n.465-5T>C
NM_000562.3:c.465-5T>C MANE Select	NP_000553.1:n.465-5T>C