Canonical Allele Identifier: CA466940878
Gene: C5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.123725013A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962735A>G , CM000671.2:g.120962735A>G GRCh38
NC_000009.11:g.123725013A>G , CM000671.1:g.123725013A>G GRCh37
NC_000009.10:g.122764834A>G NCBI36
NG_007364.1:g.92542T>C , LRG_28:g.92542T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1474T>C
ENST00000696279.1:c.4760T>C
ENST00000696280.1:n.4529T>C
ENST00000696281.1:c.4458T>C ENSP00000512521.1:p.Phe1486=
ENST00000697921.1:n.3318T>C
ENST00000697922.1:c.*4430T>C ENSP00000513478.1:n.*4430T>C
ENST00000697923.1:n.4885T>C
ENST00000223642.3:c.4440T>C MANE Select ENSP00000223642.1:p.Phe1480=
ENST00000223642.2:c.4440T>C ENSP00000223642.1:p.Phe1480=
NM_001735.2:c.4440T>C , LRG_28t1:c.4440T>C NP_001726.2:p.Phe1480=
XM_011518980.1:c.4455T>C XP_011517282.1:p.Phe1485=
NM_001317163.1:c.4458T>C NP_001304092.1:p.Phe1486=
NM_001317163.2:c.4458T>C NP_001304092.1:p.Phe1486=
NM_001735.3:c.4440T>C MANE Select NP_001726.2:p.Phe1480=