Canonical Allele Identifier: CA2541773252

Gene: C3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713648C>A , CM000681.2:g.6713648C>A	GRCh38
NC_000019.9:g.6713659C>A , CM000681.1:g.6713659C>A	GRCh37
NC_000019.8:g.6664659C>A	NCBI36
NG_009557.1:g.12004G>T , LRG_27:g.12004G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.651-139G>T	ENSP00000512083.1:n.651-139G>T
ENST00000245907.11:c.774-139G>T MANE Select	ENSP00000245907.4:n.774-139G>T
ENST00000245907.10:c.774-139G>T	ENSP00000245907.4:n.774-139G>T
ENST00000595577.1:n.278-139G>T
ENST00000597442.5:n.23+118G>T
NM_000064.3:c.774-139G>T	NP_000055.2:n.774-139G>T
NM_000064.4:c.774-139G>T MANE Select	NP_000055.2:n.774-139G>T