Canonical Allele Identifier: CA2579437566

Gene: C5

Linked Data

• gnomAD v4: 9-120962603-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962603G>T , CM000671.2:g.120962603G>T	GRCh38
NC_000009.11:g.123724881G>T , CM000671.1:g.123724881G>T	GRCh37
NC_000009.10:g.122764702G>T	NCBI36
NG_007364.1:g.92674C>A , LRG_28:g.92674C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1538+68C>A
ENST00000696279.1:c.4824+68C>A
ENST00000696280.1:n.4593+68C>A
ENST00000696281.1:c.4522+68C>A	ENSP00000512521.1:n.4522+68C>A
ENST00000697921.1:n.3382+68C>A
ENST00000697922.1:c.*4494+68C>A	ENSP00000513478.1:n.*4494+68C>A
ENST00000697923.1:n.4949+68C>A
ENST00000223642.3:c.4504+68C>A MANE Select	ENSP00000223642.1:n.4504+68C>A
ENST00000223642.2:c.4504+68C>A	ENSP00000223642.1:n.4504+68C>A
ENST00000480188.1:n.37+68C>A
NM_001735.2:c.4504+68C>A , LRG_28t1:c.4504+68C>A	NP_001726.2:n.4504+68C>A
XM_011518980.1:c.4519+68C>A	XP_011517282.1:n.4519+68C>A
NM_001317163.1:c.4522+68C>A	NP_001304092.1:n.4522+68C>A
NM_001317163.2:c.4522+68C>A	NP_001304092.1:n.4522+68C>A
NM_001735.3:c.4504+68C>A MANE Select	NP_001726.2:n.4504+68C>A