Canonical Allele Identifier: CA993077748

Gene: C3

Linked Data

• gnomAD v3: 19-6713625-C-A
• gnomAD v4: 19-6713625-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713625C>A , CM000681.2:g.6713625C>A	GRCh38
NC_000019.9:g.6713636C>A , CM000681.1:g.6713636C>A	GRCh37
NC_000019.8:g.6664636C>A	NCBI36
NG_009557.1:g.12027G>T , LRG_27:g.12027G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.651-116G>T	ENSP00000512083.1:n.651-116G>T
ENST00000245907.11:c.774-116G>T MANE Select	ENSP00000245907.4:n.774-116G>T
ENST00000245907.10:c.774-116G>T	ENSP00000245907.4:n.774-116G>T
ENST00000595577.1:n.278-116G>T
ENST00000597442.5:n.24-116G>T
NM_000064.3:c.774-116G>T	NP_000055.2:n.774-116G>T
NM_000064.4:c.774-116G>T MANE Select	NP_000055.2:n.774-116G>T