Canonical Allele Identifier: CA127054
Gene: C5 HGNC NCBI

Linked Data

ClinVar Variation Id: 17051
dbSNP Id: rs121909588

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962749G>A , CM000671.2:g.120962749G>A GRCh38
NC_000009.11:g.123725027G>A , CM000671.1:g.123725027G>A GRCh37
NC_000009.10:g.122764848G>A NCBI36
NG_007364.1:g.92528C>T , LRG_28:g.92528C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000480188.2:n.1460C>T
ENST00000696279.1:c.4746C>T
ENST00000696280.1:n.4515C>T
ENST00000696281.1:c.4444C>T ENSP00000512521.1:p.Arg1482Ter
ENST00000697921.1:n.3304C>T
ENST00000697922.1:c.*4416C>T ENSP00000513478.1:n.*4416C>T
ENST00000697923.1:n.4871C>T
ENST00000223642.3:c.4426C>T MANE Select ENSP00000223642.1:p.Arg1476Ter
ENST00000223642.2:c.4426C>T ENSP00000223642.1:p.Arg1476Ter
NM_001735.2:c.4426C>T , LRG_28t1:c.4426C>T NP_001726.2:p.Arg1476Ter
XM_011518980.1:c.4441C>T XP_011517282.1:p.Arg1481Ter
NM_001317163.1:c.4444C>T NP_001304092.1:p.Arg1482Ter
NM_001317163.2:c.4444C>T NP_001304092.1:p.Arg1482Ter
NM_001735.3:c.4426C>T MANE Select NP_001726.2:p.Arg1476Ter