Canonical Allele Identifier: CA374745945

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123724949C>G (hg19) ; chr9:g.120962671C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962671C>G , CM000671.2:g.120962671C>G	GRCh38
NC_000009.11:g.123724949C>G , CM000671.1:g.123724949C>G	GRCh37
NC_000009.10:g.122764770C>G	NCBI36
NG_007364.1:g.92606G>C , LRG_28:g.92606G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000480188.2:n.1538G>C
ENST00000696279.1:c.4824G>C
ENST00000696280.1:n.4593G>C
ENST00000696281.1:c.4522G>C	ENSP00000512521.1:p.Asp1508His
ENST00000697921.1:n.3382G>C
ENST00000697922.1:c.*4494G>C	ENSP00000513478.1:n.*4494G>C
ENST00000697923.1:n.4949G>C
ENST00000223642.3:c.4504G>C MANE Select	ENSP00000223642.1:p.Asp1502His
ENST00000223642.2:c.4504G>C	ENSP00000223642.1:p.Asp1502His
ENST00000480188.1:n.37G>C
NM_001735.2:c.4504G>C , LRG_28t1:c.4504G>C	NP_001726.2:p.Asp1502His
XM_011518980.1:c.4519G>C	XP_011517282.1:p.Asp1507His
NM_001317163.1:c.4522G>C	NP_001304092.1:p.Asp1508His
NM_001317163.2:c.4522G>C	NP_001304092.1:p.Asp1508His
NM_001735.3:c.4504G>C MANE Select	NP_001726.2:p.Asp1502His