Canonical Allele Identifier: CA466940789
Gene: C5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.123724977A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962699A>C , CM000671.2:g.120962699A>C GRCh38
NC_000009.11:g.123724977A>C , CM000671.1:g.123724977A>C GRCh37
NC_000009.10:g.122764798A>C NCBI36
NG_007364.1:g.92578T>G , LRG_28:g.92578T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1510T>G
ENST00000696279.1:c.4796T>G
ENST00000696280.1:n.4565T>G
ENST00000696281.1:c.4494T>G ENSP00000512521.1:p.Thr1498=
ENST00000697921.1:n.3354T>G
ENST00000697922.1:c.*4466T>G ENSP00000513478.1:n.*4466T>G
ENST00000697923.1:n.4921T>G
ENST00000223642.3:c.4476T>G MANE Select ENSP00000223642.1:p.Thr1492=
ENST00000223642.2:c.4476T>G ENSP00000223642.1:p.Thr1492=
ENST00000480188.1:n.9T>G
NM_001735.2:c.4476T>G , LRG_28t1:c.4476T>G NP_001726.2:p.Thr1492=
XM_011518980.1:c.4491T>G XP_011517282.1:p.Thr1497=
NM_001317163.1:c.4494T>G NP_001304092.1:p.Thr1498=
NM_001317163.2:c.4494T>G NP_001304092.1:p.Thr1498=
NM_001735.3:c.4476T>G MANE Select NP_001726.2:p.Thr1492=