Canonical Allele Identifier: CA2508345757

Gene: C5

Linked Data

• gnomAD v4: 9-120962783-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962783A>C , CM000671.2:g.120962783A>C	GRCh38
NC_000009.11:g.123725061A>C , CM000671.1:g.123725061A>C	GRCh37
NC_000009.10:g.122764882A>C	NCBI36
NG_007364.1:g.92494T>G , LRG_28:g.92494T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1433-7T>G
ENST00000696279.1:c.4719-7T>G
ENST00000696280.1:n.4488-7T>G
ENST00000696281.1:c.4417-7T>G	ENSP00000512521.1:n.4417-7T>G
ENST00000697921.1:n.3277-7T>G
ENST00000697922.1:c.*4389-7T>G	ENSP00000513478.1:n.*4389-7T>G
ENST00000697923.1:n.4844-7T>G
ENST00000223642.3:c.4399-7T>G MANE Select	ENSP00000223642.1:n.4399-7T>G
ENST00000223642.2:c.4399-7T>G	ENSP00000223642.1:n.4399-7T>G
NM_001735.2:c.4399-7T>G , LRG_28t1:c.4399-7T>G	NP_001726.2:n.4399-7T>G
XM_011518980.1:c.4414-7T>G	XP_011517282.1:n.4414-7T>G
NM_001317163.1:c.4417-7T>G	NP_001304092.1:n.4417-7T>G
NM_001317163.2:c.4417-7T>G	NP_001304092.1:n.4417-7T>G
NM_001735.3:c.4399-7T>G MANE Select	NP_001726.2:n.4399-7T>G