Canonical Allele Identifier: CA2691480439

Gene: C5

Linked Data

• gnomAD v4: 9-120962656-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962656C>T , CM000671.2:g.120962656C>T	GRCh38
NC_000009.11:g.123724934C>T , CM000671.1:g.123724934C>T	GRCh37
NC_000009.10:g.122764755C>T	NCBI36
NG_007364.1:g.92621G>A , LRG_28:g.92621G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000480188.2:n.1538+15G>A
ENST00000696279.1:c.4824+15G>A
ENST00000696280.1:n.4593+15G>A
ENST00000696281.1:c.4522+15G>A	ENSP00000512521.1:n.4522+15G>A
ENST00000697921.1:n.3382+15G>A
ENST00000697922.1:c.*4494+15G>A	ENSP00000513478.1:n.*4494+15G>A
ENST00000697923.1:n.4949+15G>A
ENST00000223642.3:c.4504+15G>A MANE Select	ENSP00000223642.1:n.4504+15G>A
ENST00000223642.2:c.4504+15G>A	ENSP00000223642.1:n.4504+15G>A
ENST00000480188.1:n.37+15G>A
NM_001735.2:c.4504+15G>A , LRG_28t1:c.4504+15G>A	NP_001726.2:n.4504+15G>A
XM_011518980.1:c.4519+15G>A	XP_011517282.1:n.4519+15G>A
NM_001317163.1:c.4522+15G>A	NP_001304092.1:n.4522+15G>A
NM_001317163.2:c.4522+15G>A	NP_001304092.1:n.4522+15G>A
NM_001735.3:c.4504+15G>A MANE Select	NP_001726.2:n.4504+15G>A