Canonical Allele Identifier: CA2691480463

Gene: C5

Linked Data

• gnomAD v4: 9-120962840-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962840T>C , CM000671.2:g.120962840T>C	GRCh38
NC_000009.11:g.123725118T>C , CM000671.1:g.123725118T>C	GRCh37
NC_000009.10:g.122764939T>C	NCBI36
NG_007364.1:g.92437A>G , LRG_28:g.92437A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1432+53A>G
ENST00000696279.1:c.4718+53A>G
ENST00000696280.1:n.4487+53A>G
ENST00000696281.1:c.4416+53A>G	ENSP00000512521.1:n.4416+53A>G
ENST00000697921.1:n.3276+53A>G
ENST00000697922.1:c.*4388+53A>G	ENSP00000513478.1:n.*4388+53A>G
ENST00000697923.1:n.4843+53A>G
ENST00000223642.3:c.4398+53A>G MANE Select	ENSP00000223642.1:n.4398+53A>G
ENST00000223642.2:c.4398+53A>G	ENSP00000223642.1:n.4398+53A>G
NM_001735.2:c.4398+53A>G , LRG_28t1:c.4398+53A>G	NP_001726.2:n.4398+53A>G
XM_011518980.1:c.4413+53A>G	XP_011517282.1:n.4413+53A>G
NM_001317163.1:c.4416+53A>G	NP_001304092.1:n.4416+53A>G
NM_001317163.2:c.4416+53A>G	NP_001304092.1:n.4416+53A>G
NM_001735.3:c.4398+53A>G MANE Select	NP_001726.2:n.4398+53A>G