Canonical Allele Identifier: CA466940866

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123725007G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962729G>C , CM000671.2:g.120962729G>C	GRCh38
NC_000009.11:g.123725007G>C , CM000671.1:g.123725007G>C	GRCh37
NC_000009.10:g.122764828G>C	NCBI36
NG_007364.1:g.92548C>G , LRG_28:g.92548C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1480C>G
ENST00000696279.1:c.4766C>G
ENST00000696280.1:n.4535C>G
ENST00000696281.1:c.4464C>G	ENSP00000512521.1:p.Leu1488=
ENST00000697921.1:n.3324C>G
ENST00000697922.1:c.*4436C>G	ENSP00000513478.1:n.*4436C>G
ENST00000697923.1:n.4891C>G
ENST00000223642.3:c.4446C>G MANE Select	ENSP00000223642.1:p.Leu1482=
ENST00000223642.2:c.4446C>G	ENSP00000223642.1:p.Leu1482=
NM_001735.2:c.4446C>G , LRG_28t1:c.4446C>G	NP_001726.2:p.Leu1482=
XM_011518980.1:c.4461C>G	XP_011517282.1:p.Leu1487=
NM_001317163.1:c.4464C>G	NP_001304092.1:p.Leu1488=
NM_001317163.2:c.4464C>G	NP_001304092.1:p.Leu1488=
NM_001735.3:c.4446C>G MANE Select	NP_001726.2:p.Leu1482=