Canonical Allele Identifier: CA1876858737
Gene: C5 HGNC NCBI

Linked Data

dbSNP Id: rs2046695217

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120938544G>A , CM000671.2:g.120938544G>A GRCh38
NC_000009.11:g.123700822G>A , CM000671.1:g.123700822G>A GRCh37
NC_000009.10:g.122740643G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696279.1:c.5899-4590C>T
ENST00000696280.1:n.5668-4590C>T
ENST00000696281.1:c.*548-4590C>T ENSP00000512521.1:n.*548-4590C>T
ENST00000697921.1:n.4457-4590C>T
ENST00000697922.1:c.*5569-4590C>T ENSP00000513478.1:n.*5569-4590C>T