Canonical Allele Identifier: CA374747645

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123725226T>A (hg19) ; chr9:g.120962948T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962948T>A , CM000671.2:g.120962948T>A	GRCh38
NC_000009.11:g.123725226T>A , CM000671.1:g.123725226T>A	GRCh37
NC_000009.10:g.122765047T>A	NCBI36
NG_007364.1:g.92329A>T , LRG_28:g.92329A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1377A>T
ENST00000696279.1:c.4663A>T
ENST00000696280.1:n.4432A>T
ENST00000696281.1:c.4361A>T	ENSP00000512521.1:p.Gln1454Leu
ENST00000697921.1:n.3221A>T
ENST00000697922.1:c.*4333A>T	ENSP00000513478.1:n.*4333A>T
ENST00000697923.1:n.4788A>T
ENST00000223642.3:c.4343A>T MANE Select	ENSP00000223642.1:p.Gln1448Leu
ENST00000223642.2:c.4343A>T	ENSP00000223642.1:p.Gln1448Leu
NM_001735.2:c.4343A>T , LRG_28t1:c.4343A>T	NP_001726.2:p.Gln1448Leu
XM_011518980.1:c.4358A>T	XP_011517282.1:p.Gln1453Leu
NM_001317163.1:c.4361A>T	NP_001304092.1:p.Gln1454Leu
NM_001317163.2:c.4361A>T	NP_001304092.1:p.Gln1454Leu
NM_001735.3:c.4343A>T MANE Select	NP_001726.2:p.Gln1448Leu