Canonical Allele Identifier: CA374747408

Gene: C5

Linked Data

• gnomAD v4: 9-120962920-A-C
• MyVariant Identifiers: chr9:g.123725198A>C (hg19) ; chr9:g.120962920A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962920A>C , CM000671.2:g.120962920A>C	GRCh38
NC_000009.11:g.123725198A>C , CM000671.1:g.123725198A>C	GRCh37
NC_000009.10:g.122765019A>C	NCBI36
NG_007364.1:g.92357T>G , LRG_28:g.92357T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1405T>G
ENST00000696279.1:c.4691T>G
ENST00000696280.1:n.4460T>G
ENST00000696281.1:c.4389T>G	ENSP00000512521.1:p.Asp1463Glu
ENST00000697921.1:n.3249T>G
ENST00000697922.1:c.*4361T>G	ENSP00000513478.1:n.*4361T>G
ENST00000697923.1:n.4816T>G
ENST00000223642.3:c.4371T>G MANE Select	ENSP00000223642.1:p.Asp1457Glu
ENST00000223642.2:c.4371T>G	ENSP00000223642.1:p.Asp1457Glu
NM_001735.2:c.4371T>G , LRG_28t1:c.4371T>G	NP_001726.2:p.Asp1457Glu
XM_011518980.1:c.4386T>G	XP_011517282.1:p.Asp1462Glu
NM_001317163.1:c.4389T>G	NP_001304092.1:p.Asp1463Glu
NM_001317163.2:c.4389T>G	NP_001304092.1:p.Asp1463Glu
NM_001735.3:c.4371T>G MANE Select	NP_001726.2:p.Asp1457Glu