Canonical Allele Identifier: CA374745934

Gene: C5

Linked Data

• gnomAD v4: 9-120962670-C-T
• MyVariant Identifiers: chr9:g.123724948C>T (hg19) ; chr9:g.120962670C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962670C>T , CM000671.2:g.120962670C>T	GRCh38
NC_000009.11:g.123724948C>T , CM000671.1:g.123724948C>T	GRCh37
NC_000009.10:g.122764769C>T	NCBI36
NG_007364.1:g.92607G>A , LRG_28:g.92607G>A

Transcript Alleles

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