Canonical Allele Identifier: CA374747863

Gene: C5

Linked Data

• dbSNP Id: rs1418687850
• gnomAD v3: 9-120962958-C-G
• gnomAD v4: 9-120962958-C-G
• MyVariant Identifiers: chr9:g.123725236C>G (hg19) ; chr9:g.120962958C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962958C>G , CM000671.2:g.120962958C>G	GRCh38
NC_000009.11:g.123725236C>G , CM000671.1:g.123725236C>G	GRCh37
NC_000009.10:g.122765057C>G	NCBI36
NG_007364.1:g.92319G>C , LRG_28:g.92319G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1367G>C
ENST00000696279.1:c.4653G>C
ENST00000696280.1:n.4422G>C
ENST00000696281.1:c.4351G>C	ENSP00000512521.1:p.Gly1451Arg
ENST00000697921.1:n.3211G>C
ENST00000697922.1:c.*4323G>C	ENSP00000513478.1:n.*4323G>C
ENST00000697923.1:n.4778G>C
ENST00000223642.3:c.4333G>C MANE Select	ENSP00000223642.1:p.Gly1445Arg
ENST00000223642.2:c.4333G>C	ENSP00000223642.1:p.Gly1445Arg
NM_001735.2:c.4333G>C , LRG_28t1:c.4333G>C	NP_001726.2:p.Gly1445Arg
XM_011518980.1:c.4348G>C	XP_011517282.1:p.Gly1450Arg
NM_001317163.1:c.4351G>C	NP_001304092.1:p.Gly1451Arg
NM_001317163.2:c.4351G>C	NP_001304092.1:p.Gly1451Arg
NM_001735.3:c.4333G>C MANE Select	NP_001726.2:p.Gly1445Arg