Canonical Allele Identifier: CA374747587

Gene: C5

Linked Data

• dbSNP Id: rs1326801258
• gnomAD v2: 9-123725212-A-G
• gnomAD v4: 9-120962934-A-G
• MyVariant Identifiers: chr9:g.123725212A>G (hg19) ; chr9:g.120962934A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962934A>G , CM000671.2:g.120962934A>G	GRCh38
NC_000009.11:g.123725212A>G , CM000671.1:g.123725212A>G	GRCh37
NC_000009.10:g.122765033A>G	NCBI36
NG_007364.1:g.92343T>C , LRG_28:g.92343T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1391T>C
ENST00000696279.1:c.4677T>C
ENST00000696280.1:n.4446T>C
ENST00000696281.1:c.4375T>C	ENSP00000512521.1:p.Tyr1459His
ENST00000697921.1:n.3235T>C
ENST00000697922.1:c.*4347T>C	ENSP00000513478.1:n.*4347T>C
ENST00000697923.1:n.4802T>C
ENST00000223642.3:c.4357T>C MANE Select	ENSP00000223642.1:p.Tyr1453His
ENST00000223642.2:c.4357T>C	ENSP00000223642.1:p.Tyr1453His
NM_001735.2:c.4357T>C , LRG_28t1:c.4357T>C	NP_001726.2:p.Tyr1453His
XM_011518980.1:c.4372T>C	XP_011517282.1:p.Tyr1458His
NM_001317163.1:c.4375T>C	NP_001304092.1:p.Tyr1459His
NM_001317163.2:c.4375T>C	NP_001304092.1:p.Tyr1459His
NM_001735.3:c.4357T>C MANE Select	NP_001726.2:p.Tyr1453His