Canonical Allele Identifier: CA374747633

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123725223A>C (hg19) ; chr9:g.120962945A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962945A>C , CM000671.2:g.120962945A>C	GRCh38
NC_000009.11:g.123725223A>C , CM000671.1:g.123725223A>C	GRCh37
NC_000009.10:g.122765044A>C	NCBI36
NG_007364.1:g.92332T>G , LRG_28:g.92332T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1380T>G
ENST00000696279.1:c.4666T>G
ENST00000696280.1:n.4435T>G
ENST00000696281.1:c.4364T>G	ENSP00000512521.1:p.Leu1455Arg
ENST00000697921.1:n.3224T>G
ENST00000697922.1:c.*4336T>G	ENSP00000513478.1:n.*4336T>G
ENST00000697923.1:n.4791T>G
ENST00000223642.3:c.4346T>G MANE Select	ENSP00000223642.1:p.Leu1449Arg
ENST00000223642.2:c.4346T>G	ENSP00000223642.1:p.Leu1449Arg
NM_001735.2:c.4346T>G , LRG_28t1:c.4346T>G	NP_001726.2:p.Leu1449Arg
XM_011518980.1:c.4361T>G	XP_011517282.1:p.Leu1454Arg
NM_001317163.1:c.4364T>G	NP_001304092.1:p.Leu1455Arg
NM_001317163.2:c.4364T>G	NP_001304092.1:p.Leu1455Arg
NM_001735.3:c.4346T>G MANE Select	NP_001726.2:p.Leu1449Arg