Canonical Allele Identifier: CA12999716
Gene: C5 HGNC NCBI
COSMIC:
COSN14848294 (not active)
MyVariant.info:
GRCh38 chr9:g.120939712G>A
GRCh37 chr9:g.123701990G>A
gnomAD v2:
9:123701990 G / A
gnomAD v3:
9:120939712 G / A
gnomAD v4:
chr9-120939712-G-A
Joint Max Group AF 0.66264401 (SAS)
Genomes Max Group AF 0.66264401 (SAS)
dbSNP:
10760130
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120939712G>A , CM000671.2:g.120939712G>A GRCh38
NC_000009.11:g.123701990G>A , CM000671.1:g.123701990G>A GRCh37
NC_000009.10:g.122741811G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696279.1:c.5899-5758C>T
ENST00000696280.1:n.5668-5758C>T
ENST00000696281.1:c.*548-5758C>T ENSP00000512521.1:n.*548-5758C>T
ENST00000697921.1:n.4457-5758C>T
ENST00000697922.1:c.*5569-5758C>T ENSP00000513478.1:n.*5569-5758C>T
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