Canonical Allele Identifier: CA374746382

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123724993A>C (hg19) ; chr9:g.120962715A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962715A>C , CM000671.2:g.120962715A>C	GRCh38
NC_000009.11:g.123724993A>C , CM000671.1:g.123724993A>C	GRCh37
NC_000009.10:g.122764814A>C	NCBI36
NG_007364.1:g.92562T>G , LRG_28:g.92562T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1494T>G
ENST00000696279.1:c.4780T>G
ENST00000696280.1:n.4549T>G
ENST00000696281.1:c.4478T>G	ENSP00000512521.1:p.Phe1493Cys
ENST00000697921.1:n.3338T>G
ENST00000697922.1:c.*4450T>G	ENSP00000513478.1:n.*4450T>G
ENST00000697923.1:n.4905T>G
ENST00000223642.3:c.4460T>G MANE Select	ENSP00000223642.1:p.Phe1487Cys
ENST00000223642.2:c.4460T>G	ENSP00000223642.1:p.Phe1487Cys
NM_001735.2:c.4460T>G , LRG_28t1:c.4460T>G	NP_001726.2:p.Phe1487Cys
XM_011518980.1:c.4475T>G	XP_011517282.1:p.Phe1492Cys
NM_001317163.1:c.4478T>G	NP_001304092.1:p.Phe1493Cys
NM_001317163.2:c.4478T>G	NP_001304092.1:p.Phe1493Cys
NM_001735.3:c.4460T>G MANE Select	NP_001726.2:p.Phe1487Cys