Canonical Allele Identifier: CA374746659

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123725023A>G (hg19) ; chr9:g.120962745A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962745A>G , CM000671.2:g.120962745A>G	GRCh38
NC_000009.11:g.123725023A>G , CM000671.1:g.123725023A>G	GRCh37
NC_000009.10:g.122764844A>G	NCBI36
NG_007364.1:g.92532T>C , LRG_28:g.92532T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1464T>C
ENST00000696279.1:c.4750T>C
ENST00000696280.1:n.4519T>C
ENST00000696281.1:c.4448T>C	ENSP00000512521.1:p.Phe1483Ser
ENST00000697921.1:n.3308T>C
ENST00000697922.1:c.*4420T>C	ENSP00000513478.1:n.*4420T>C
ENST00000697923.1:n.4875T>C
ENST00000223642.3:c.4430T>C MANE Select	ENSP00000223642.1:p.Phe1477Ser
ENST00000223642.2:c.4430T>C	ENSP00000223642.1:p.Phe1477Ser
NM_001735.2:c.4430T>C , LRG_28t1:c.4430T>C	NP_001726.2:p.Phe1477Ser
XM_011518980.1:c.4445T>C	XP_011517282.1:p.Phe1482Ser
NM_001317163.1:c.4448T>C	NP_001304092.1:p.Phe1483Ser
NM_001317163.2:c.4448T>C	NP_001304092.1:p.Phe1483Ser
NM_001735.3:c.4430T>C MANE Select	NP_001726.2:p.Phe1477Ser