Canonical Allele Identifier: CA859587827

Gene: C5

Linked Data

• dbSNP Id: rs1411791101
• gnomAD v3: 9-120939689-A-G
• gnomAD v4: 9-120939689-A-G
• MyVariant Identifiers: chr9:g.123701967A>G (hg19) ; chr9:g.120939689A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120939689A>G , CM000671.2:g.120939689A>G	GRCh38
NC_000009.11:g.123701967A>G , CM000671.1:g.123701967A>G	GRCh37
NC_000009.10:g.122741788A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696279.1:c.5899-5735T>C
ENST00000696280.1:n.5668-5735T>C
ENST00000696281.1:c.*548-5735T>C	ENSP00000512521.1:n.*548-5735T>C
ENST00000697921.1:n.4457-5735T>C
ENST00000697922.1:c.*5569-5735T>C	ENSP00000513478.1:n.*5569-5735T>C