Canonical Allele Identifier: CA1128778700

Gene: C5

Linked Data

• dbSNP Id: rs540868879
• gnomAD v3: 9-120938497-A-G
• gnomAD v4: 9-120938497-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120938497A>G , CM000671.2:g.120938497A>G	GRCh38
NC_000009.11:g.123700775A>G , CM000671.1:g.123700775A>G	GRCh37
NC_000009.10:g.122740596A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696279.1:c.5899-4543T>C
ENST00000696280.1:n.5668-4543T>C
ENST00000696281.1:c.*548-4543T>C	ENSP00000512521.1:n.*548-4543T>C
ENST00000697921.1:n.4457-4543T>C
ENST00000697922.1:c.*5569-4543T>C	ENSP00000513478.1:n.*5569-4543T>C