Canonical Allele Identifier: CA466940916
Gene: C5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.123725028T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962750T>C , CM000671.2:g.120962750T>C GRCh38
NC_000009.11:g.123725028T>C , CM000671.1:g.123725028T>C GRCh37
NC_000009.10:g.122764849T>C NCBI36
NG_007364.1:g.92527A>G , LRG_28:g.92527A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1459A>G
ENST00000696279.1:c.4745A>G
ENST00000696280.1:n.4514A>G
ENST00000696281.1:c.4443A>G ENSP00000512521.1:p.Val1481=
ENST00000697921.1:n.3303A>G
ENST00000697922.1:c.*4415A>G ENSP00000513478.1:n.*4415A>G
ENST00000697923.1:n.4870A>G
ENST00000223642.3:c.4425A>G MANE Select ENSP00000223642.1:p.Val1475=
ENST00000223642.2:c.4425A>G ENSP00000223642.1:p.Val1475=
NM_001735.2:c.4425A>G , LRG_28t1:c.4425A>G NP_001726.2:p.Val1475=
XM_011518980.1:c.4440A>G XP_011517282.1:p.Val1480=
NM_001317163.1:c.4443A>G NP_001304092.1:p.Val1481=
NM_001317163.2:c.4443A>G NP_001304092.1:p.Val1481=
NM_001735.3:c.4425A>G MANE Select NP_001726.2:p.Val1475=