Canonical Allele Identifier: CA466941077

Gene: C5

Linked Data

• gnomAD v4: 9-120962911-A-T
• MyVariant Identifiers: chr9:g.123725189A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962911A>T , CM000671.2:g.120962911A>T	GRCh38
NC_000009.11:g.123725189A>T , CM000671.1:g.123725189A>T	GRCh37
NC_000009.10:g.122765010A>T	NCBI36
NG_007364.1:g.92366T>A , LRG_28:g.92366T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1414T>A
ENST00000696279.1:c.4700T>A
ENST00000696280.1:n.4469T>A
ENST00000696281.1:c.4398T>A	ENSP00000512521.1:p.Val1466=
ENST00000697921.1:n.3258T>A
ENST00000697922.1:c.*4370T>A	ENSP00000513478.1:n.*4370T>A
ENST00000697923.1:n.4825T>A
ENST00000223642.3:c.4380T>A MANE Select	ENSP00000223642.1:p.Val1460=
ENST00000223642.2:c.4380T>A	ENSP00000223642.1:p.Val1460=
NM_001735.2:c.4380T>A , LRG_28t1:c.4380T>A	NP_001726.2:p.Val1460=
XM_011518980.1:c.4395T>A	XP_011517282.1:p.Val1465=
NM_001317163.1:c.4398T>A	NP_001304092.1:p.Val1466=
NM_001317163.2:c.4398T>A	NP_001304092.1:p.Val1466=
NM_001735.3:c.4380T>A MANE Select	NP_001726.2:p.Val1460=