Canonical Allele Identifier: CA590200133

Gene: C5

Linked Data

• dbSNP Id: rs1357424891
• gnomAD v2: 9-123702000-T-C
• gnomAD v3: 9-120939722-T-C
• gnomAD v4: 9-120939722-T-C
• MyVariant Identifiers: chr9:g.123702000T>C (hg19) ; chr9:g.120939722T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120939722T>C , CM000671.2:g.120939722T>C	GRCh38
NC_000009.11:g.123702000T>C , CM000671.1:g.123702000T>C	GRCh37
NC_000009.10:g.122741821T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000696279.1:c.5899-5768A>G
ENST00000696280.1:n.5668-5768A>G
ENST00000696281.1:c.*548-5768A>G	ENSP00000512521.1:n.*548-5768A>G
ENST00000697921.1:n.4457-5768A>G
ENST00000697922.1:c.*5569-5768A>G	ENSP00000513478.1:n.*5569-5768A>G