Canonical Allele Identifier: CA590502063

Gene: C5

Linked Data

• dbSNP Id: rs1177032889
• gnomAD v2: 9-123725109-C-A
• gnomAD v3: 9-120962831-C-A
• gnomAD v4: 9-120962831-C-A
• MyVariant Identifiers: chr9:g.123725109C>A (hg19) ; chr9:g.120962831C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962831C>A , CM000671.2:g.120962831C>A	GRCh38
NC_000009.11:g.123725109C>A , CM000671.1:g.123725109C>A	GRCh37
NC_000009.10:g.122764930C>A	NCBI36
NG_007364.1:g.92446G>T , LRG_28:g.92446G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1433-55G>T
ENST00000696279.1:c.4719-55G>T
ENST00000696280.1:n.4488-55G>T
ENST00000696281.1:c.4417-55G>T	ENSP00000512521.1:n.4417-55G>T
ENST00000697921.1:n.3277-55G>T
ENST00000697922.1:c.*4389-55G>T	ENSP00000513478.1:n.*4389-55G>T
ENST00000697923.1:n.4844-55G>T
ENST00000223642.3:c.4399-55G>T MANE Select	ENSP00000223642.1:n.4399-55G>T
ENST00000223642.2:c.4399-55G>T	ENSP00000223642.1:n.4399-55G>T
NM_001735.2:c.4399-55G>T , LRG_28t1:c.4399-55G>T	NP_001726.2:n.4399-55G>T
XM_011518980.1:c.4414-55G>T	XP_011517282.1:n.4414-55G>T
NM_001317163.1:c.4417-55G>T	NP_001304092.1:n.4417-55G>T
NM_001317163.2:c.4417-55G>T	NP_001304092.1:n.4417-55G>T
NM_001735.3:c.4399-55G>T MANE Select	NP_001726.2:n.4399-55G>T