Canonical Allele Identifier: CA466942884
Gene: C5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.123731380G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120969102G>T , CM000671.2:g.120969102G>T GRCh38
NC_000009.11:g.123731380G>T , CM000671.1:g.123731380G>T GRCh37
NC_000009.10:g.122771201G>T NCBI36
NG_007364.1:g.86175C>A , LRG_28:g.86175C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1213C>A
ENST00000696279.1:c.4499C>A
ENST00000696280.1:n.4268C>A
ENST00000696281.1:c.4197C>A ENSP00000512521.1:p.Gly1399=
ENST00000697921.1:n.3057C>A
ENST00000697922.1:c.*4169C>A ENSP00000513478.1:n.*4169C>A
ENST00000697923.1:n.4624C>A
ENST00000223642.3:c.4179C>A MANE Select ENSP00000223642.1:p.Gly1393=
ENST00000223642.2:c.4179C>A ENSP00000223642.1:p.Gly1393=
NM_001735.2:c.4179C>A , LRG_28t1:c.4179C>A NP_001726.2:p.Gly1393=
XM_011518980.1:c.4194C>A XP_011517282.1:p.Gly1398=
NM_001317163.1:c.4197C>A NP_001304092.1:p.Gly1399=
NM_001317163.2:c.4197C>A NP_001304092.1:p.Gly1399=
NM_001735.3:c.4179C>A MANE Select NP_001726.2:p.Gly1393=