Canonical Allele Identifier: CA590502067

Gene: C5

Linked Data

• dbSNP Id: rs1247087433
• gnomAD v2: 9-123725141-A-T
• gnomAD v4: 9-120962863-A-T
• MyVariant Identifiers: chr9:g.123725141A>T (hg19) ; chr9:g.120962863A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962863A>T , CM000671.2:g.120962863A>T	GRCh38
NC_000009.11:g.123725141A>T , CM000671.1:g.123725141A>T	GRCh37
NC_000009.10:g.122764962A>T	NCBI36
NG_007364.1:g.92414T>A , LRG_28:g.92414T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1432+30T>A
ENST00000696279.1:c.4718+30T>A
ENST00000696280.1:n.4487+30T>A
ENST00000696281.1:c.4416+30T>A	ENSP00000512521.1:n.4416+30T>A
ENST00000697921.1:n.3276+30T>A
ENST00000697922.1:c.*4388+30T>A	ENSP00000513478.1:n.*4388+30T>A
ENST00000697923.1:n.4843+30T>A
ENST00000223642.3:c.4398+30T>A MANE Select	ENSP00000223642.1:n.4398+30T>A
ENST00000223642.2:c.4398+30T>A	ENSP00000223642.1:n.4398+30T>A
NM_001735.2:c.4398+30T>A , LRG_28t1:c.4398+30T>A	NP_001726.2:n.4398+30T>A
XM_011518980.1:c.4413+30T>A	XP_011517282.1:n.4413+30T>A
NM_001317163.1:c.4416+30T>A	NP_001304092.1:n.4416+30T>A
NM_001317163.2:c.4416+30T>A	NP_001304092.1:n.4416+30T>A
NM_001735.3:c.4398+30T>A MANE Select	NP_001726.2:n.4398+30T>A