Canonical Allele Identifier: CA466929206

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123737060T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120974782T>A , CM000671.2:g.120974782T>A	GRCh38
NC_000009.11:g.123737060T>A , CM000671.1:g.123737060T>A	GRCh37
NC_000009.10:g.122776881T>A	NCBI36
NG_007364.1:g.80495A>T , LRG_28:g.80495A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.925A>T
ENST00000696279.1:c.4334A>T
ENST00000696280.1:n.4103A>T
ENST00000696281.1:c.4032A>T	ENSP00000512521.1:p.Val1344=
ENST00000697921.1:n.2892A>T
ENST00000697922.1:c.*4004A>T	ENSP00000513478.1:n.*4004A>T
ENST00000697923.1:n.4459A>T
ENST00000223642.3:c.4014A>T MANE Select	ENSP00000223642.1:p.Val1338=
ENST00000223642.2:c.4014A>T	ENSP00000223642.1:p.Val1338=
NM_001735.2:c.4014A>T , LRG_28t1:c.4014A>T	NP_001726.2:p.Val1338=
XM_011518980.1:c.4029A>T	XP_011517282.1:p.Val1343=
NM_001317163.1:c.4032A>T	NP_001304092.1:p.Val1344=
NM_001317163.2:c.4032A>T	NP_001304092.1:p.Val1344=
NM_001735.3:c.4014A>T MANE Select	NP_001726.2:p.Val1338=