Canonical Allele Identifier: CA374746327

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123724990A>T (hg19) ; chr9:g.120962712A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962712A>T , CM000671.2:g.120962712A>T	GRCh38
NC_000009.11:g.123724990A>T , CM000671.1:g.123724990A>T	GRCh37
NC_000009.10:g.122764811A>T	NCBI36
NG_007364.1:g.92565T>A , LRG_28:g.92565T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1497T>A
ENST00000696279.1:c.4783T>A
ENST00000696280.1:n.4552T>A
ENST00000696281.1:c.4481T>A	ENSP00000512521.1:p.Leu1494His
ENST00000697921.1:n.3341T>A
ENST00000697922.1:c.*4453T>A	ENSP00000513478.1:n.*4453T>A
ENST00000697923.1:n.4908T>A
ENST00000223642.3:c.4463T>A MANE Select	ENSP00000223642.1:p.Leu1488His
ENST00000223642.2:c.4463T>A	ENSP00000223642.1:p.Leu1488His
NM_001735.2:c.4463T>A , LRG_28t1:c.4463T>A	NP_001726.2:p.Leu1488His
XM_011518980.1:c.4478T>A	XP_011517282.1:p.Leu1493His
NM_001317163.1:c.4481T>A	NP_001304092.1:p.Leu1494His
NM_001317163.2:c.4481T>A	NP_001304092.1:p.Leu1494His
NM_001735.3:c.4463T>A MANE Select	NP_001726.2:p.Leu1488His