Canonical Allele Identifier: CA993073540
Gene: C3 HGNC NCBI

Linked Data

gnomAD v3: 19-6710012-A-T
gnomAD v4: 19-6710012-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6710012A>T , CM000681.2:g.6710012A>T GRCh38
NC_000019.9:g.6710023A>T , CM000681.1:g.6710023A>T GRCh37
NC_000019.8:g.6661023A>T NCBI36
NG_009557.1:g.15640T>A , LRG_27:g.15640T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1564-170T>A ENSP00000512083.1:n.1564-170T>A
ENST00000695654.1:c.811-170T>A ENSP00000512085.1:n.811-170T>A
ENST00000695655.1:c.592-134T>A ENSP00000512086.1:n.592-134T>A
ENST00000695692.1:n.1051-170T>A
ENST00000245907.11:c.1687-170T>A MANE Select ENSP00000245907.4:n.1687-170T>A
ENST00000245907.10:c.1687-170T>A ENSP00000245907.4:n.1687-170T>A
ENST00000600763.1:n.320-170T>A
NM_000064.3:c.1687-170T>A NP_000055.2:n.1687-170T>A
NM_000064.4:c.1687-170T>A MANE Select NP_000055.2:n.1687-170T>A