Canonical Allele Identifier: CA467188906

Gene: C5

Linked Data

• dbSNP Id: rs2047320524
• gnomAD v4: 9-121017736-C-T
• MyVariant Identifiers: chr9:g.123780014C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.121017736C>T , CM000671.2:g.121017736C>T	GRCh38
NC_000009.11:g.123780014C>T , CM000671.1:g.123780014C>T	GRCh37
NC_000009.10:g.122819835C>T	NCBI36
NG_007364.1:g.37541G>A , LRG_28:g.37541G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000466280.2:c.618G>A	ENSP00000513491.1:p.Leu206=
ENST00000696279.1:c.1943G>A
ENST00000696280.1:n.1712G>A
ENST00000696281.1:c.1641G>A	ENSP00000512521.1:p.Leu547=
ENST00000697921.1:n.501G>A
ENST00000697922.1:c.*1613G>A	ENSP00000513478.1:n.*1613G>A
ENST00000697923.1:n.2228G>A
ENST00000223642.3:c.1623G>A MANE Select	ENSP00000223642.1:p.Leu541=
ENST00000223642.2:c.1623G>A	ENSP00000223642.1:p.Leu541=
NM_001735.2:c.1623G>A , LRG_28t1:c.1623G>A	NP_001726.2:p.Leu541=
XM_011518980.1:c.1638G>A	XP_011517282.1:p.Leu546=
XM_011518981.1:c.1641G>A	XP_011517283.1:p.Leu547=
NM_001317163.1:c.1641G>A	NP_001304092.1:p.Leu547=
NM_001317164.1:c.1623G>A	NP_001304093.1:p.Leu541=
NM_001317163.2:c.1641G>A	NP_001304092.1:p.Leu547=
NM_001317164.2:c.1623G>A	NP_001304093.1:p.Leu541=
NM_001735.3:c.1623G>A MANE Select	NP_001726.2:p.Leu541=