Canonical Allele Identifier: CA466940946

Gene: C5

Linked Data

• gnomAD v4: 9-120962762-A-G
• MyVariant Identifiers: chr9:g.123725040A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962762A>G , CM000671.2:g.120962762A>G	GRCh38
NC_000009.11:g.123725040A>G , CM000671.1:g.123725040A>G	GRCh37
NC_000009.10:g.122764861A>G	NCBI36
NG_007364.1:g.92515T>C , LRG_28:g.92515T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1447T>C
ENST00000696279.1:c.4733T>C
ENST00000696280.1:n.4502T>C
ENST00000696281.1:c.4431T>C	ENSP00000512521.1:p.Asp1477=
ENST00000697921.1:n.3291T>C
ENST00000697922.1:c.*4403T>C	ENSP00000513478.1:n.*4403T>C
ENST00000697923.1:n.4858T>C
ENST00000223642.3:c.4413T>C MANE Select	ENSP00000223642.1:p.Asp1471=
ENST00000223642.2:c.4413T>C	ENSP00000223642.1:p.Asp1471=
NM_001735.2:c.4413T>C , LRG_28t1:c.4413T>C	NP_001726.2:p.Asp1471=
XM_011518980.1:c.4428T>C	XP_011517282.1:p.Asp1476=
NM_001317163.1:c.4431T>C	NP_001304092.1:p.Asp1477=
NM_001317163.2:c.4431T>C	NP_001304092.1:p.Asp1477=
NM_001735.3:c.4413T>C MANE Select	NP_001726.2:p.Asp1471=