Canonical Allele Identifier: CA1128783997

Gene: C5

Linked Data

• dbSNP Id: rs2046769346
• gnomAD v3: 9-120954280-C-T
• gnomAD v4: 9-120954280-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120954280C>T , CM000671.2:g.120954280C>T	GRCh38
NC_000009.11:g.123716558C>T , CM000671.1:g.123716558C>T	GRCh37
NC_000009.10:g.122756379C>T	NCBI36
NG_007364.1:g.100997G>A , LRG_28:g.100997G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.4801G>A
ENST00000696279.1:c.5083-412G>A
ENST00000696280.1:n.4852-412G>A
ENST00000696281.1:c.4781-412G>A	ENSP00000512521.1:n.4781-412G>A
ENST00000697921.1:n.3641-412G>A
ENST00000697922.1:c.*4753-412G>A	ENSP00000513478.1:n.*4753-412G>A
ENST00000697923.1:n.8212G>A
ENST00000223642.3:c.4763-412G>A MANE Select	ENSP00000223642.1:n.4763-412G>A
ENST00000223642.2:c.4763-412G>A	ENSP00000223642.1:n.4763-412G>A
NM_001735.2:c.4763-412G>A , LRG_28t1:c.4763-412G>A	NP_001726.2:n.4763-412G>A
XM_011518980.1:c.4778-412G>A	XP_011517282.1:n.4778-412G>A
NM_001317163.1:c.4781-412G>A	NP_001304092.1:n.4781-412G>A
NM_001317163.2:c.4781-412G>A	NP_001304092.1:n.4781-412G>A
NM_001735.3:c.4763-412G>A MANE Select	NP_001726.2:n.4763-412G>A