Canonical Allele Identifier: CA466940829
Gene: C5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.123724992A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962714A>G , CM000671.2:g.120962714A>G GRCh38
NC_000009.11:g.123724992A>G , CM000671.1:g.123724992A>G GRCh37
NC_000009.10:g.122764813A>G NCBI36
NG_007364.1:g.92563T>C , LRG_28:g.92563T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1495T>C
ENST00000696279.1:c.4781T>C
ENST00000696280.1:n.4550T>C
ENST00000696281.1:c.4479T>C ENSP00000512521.1:p.Phe1493=
ENST00000697921.1:n.3339T>C
ENST00000697922.1:c.*4451T>C ENSP00000513478.1:n.*4451T>C
ENST00000697923.1:n.4906T>C
ENST00000223642.3:c.4461T>C MANE Select ENSP00000223642.1:p.Phe1487=
ENST00000223642.2:c.4461T>C ENSP00000223642.1:p.Phe1487=
NM_001735.2:c.4461T>C , LRG_28t1:c.4461T>C NP_001726.2:p.Phe1487=
XM_011518980.1:c.4476T>C XP_011517282.1:p.Phe1492=
NM_001317163.1:c.4479T>C NP_001304092.1:p.Phe1493=
NM_001317163.2:c.4479T>C NP_001304092.1:p.Phe1493=
NM_001735.3:c.4461T>C MANE Select NP_001726.2:p.Phe1487=