Canonical Allele Identifier: CA466941180

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123725222T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962944T>G , CM000671.2:g.120962944T>G	GRCh38
NC_000009.11:g.123725222T>G , CM000671.1:g.123725222T>G	GRCh37
NC_000009.10:g.122765043T>G	NCBI36
NG_007364.1:g.92333A>C , LRG_28:g.92333A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1381A>C
ENST00000696279.1:c.4667A>C
ENST00000696280.1:n.4436A>C
ENST00000696281.1:c.4365A>C	ENSP00000512521.1:p.Leu1455=
ENST00000697921.1:n.3225A>C
ENST00000697922.1:c.*4337A>C	ENSP00000513478.1:n.*4337A>C
ENST00000697923.1:n.4792A>C
ENST00000223642.3:c.4347A>C MANE Select	ENSP00000223642.1:p.Leu1449=
ENST00000223642.2:c.4347A>C	ENSP00000223642.1:p.Leu1449=
NM_001735.2:c.4347A>C , LRG_28t1:c.4347A>C	NP_001726.2:p.Leu1449=
XM_011518980.1:c.4362A>C	XP_011517282.1:p.Leu1454=
NM_001317163.1:c.4365A>C	NP_001304092.1:p.Leu1455=
NM_001317163.2:c.4365A>C	NP_001304092.1:p.Leu1455=
NM_001735.3:c.4347A>C MANE Select	NP_001726.2:p.Leu1449=