Canonical Allele Identifier: CA374747599

Gene: C5

Linked Data

• dbSNP Id: rs1243580311
• MyVariant Identifiers: chr9:g.123725214T>C (hg19) ; chr9:g.120962936T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962936T>C , CM000671.2:g.120962936T>C	GRCh38
NC_000009.11:g.123725214T>C , CM000671.1:g.123725214T>C	GRCh37
NC_000009.10:g.122765035T>C	NCBI36
NG_007364.1:g.92341A>G , LRG_28:g.92341A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1389A>G
ENST00000696279.1:c.4675A>G
ENST00000696280.1:n.4444A>G
ENST00000696281.1:c.4373A>G	ENSP00000512521.1:p.Asp1458Gly
ENST00000697921.1:n.3233A>G
ENST00000697922.1:c.*4345A>G	ENSP00000513478.1:n.*4345A>G
ENST00000697923.1:n.4800A>G
ENST00000223642.3:c.4355A>G MANE Select	ENSP00000223642.1:p.Asp1452Gly
ENST00000223642.2:c.4355A>G	ENSP00000223642.1:p.Asp1452Gly
NM_001735.2:c.4355A>G , LRG_28t1:c.4355A>G	NP_001726.2:p.Asp1452Gly
XM_011518980.1:c.4370A>G	XP_011517282.1:p.Asp1457Gly
NM_001317163.1:c.4373A>G	NP_001304092.1:p.Asp1458Gly
NM_001317163.2:c.4373A>G	NP_001304092.1:p.Asp1458Gly
NM_001735.3:c.4355A>G MANE Select	NP_001726.2:p.Asp1452Gly