Canonical Allele Identifier: CA374747653

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123725227G>T (hg19) ; chr9:g.120962949G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962949G>T , CM000671.2:g.120962949G>T	GRCh38
NC_000009.11:g.123725227G>T , CM000671.1:g.123725227G>T	GRCh37
NC_000009.10:g.122765048G>T	NCBI36
NG_007364.1:g.92328C>A , LRG_28:g.92328C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1376C>A
ENST00000696279.1:c.4662C>A
ENST00000696280.1:n.4431C>A
ENST00000696281.1:c.4360C>A	ENSP00000512521.1:p.Gln1454Lys
ENST00000697921.1:n.3220C>A
ENST00000697922.1:c.*4332C>A	ENSP00000513478.1:n.*4332C>A
ENST00000697923.1:n.4787C>A
ENST00000223642.3:c.4342C>A MANE Select	ENSP00000223642.1:p.Gln1448Lys
ENST00000223642.2:c.4342C>A	ENSP00000223642.1:p.Gln1448Lys
NM_001735.2:c.4342C>A , LRG_28t1:c.4342C>A	NP_001726.2:p.Gln1448Lys
XM_011518980.1:c.4357C>A	XP_011517282.1:p.Gln1453Lys
NM_001317163.1:c.4360C>A	NP_001304092.1:p.Gln1454Lys
NM_001317163.2:c.4360C>A	NP_001304092.1:p.Gln1454Lys
NM_001735.3:c.4342C>A MANE Select	NP_001726.2:p.Gln1448Lys