Canonical Allele Identifier: CA993073368
Gene: C3 HGNC NCBI

Linked Data

gnomAD v3: 19-6709989-G-T
gnomAD v4: 19-6709989-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709989G>T , CM000681.2:g.6709989G>T GRCh38
NC_000019.9:g.6710000G>T , CM000681.1:g.6710000G>T GRCh37
NC_000019.8:g.6661000G>T NCBI36
NG_009557.1:g.15663C>A , LRG_27:g.15663C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1564-147C>A ENSP00000512083.1:n.1564-147C>A
ENST00000695654.1:c.811-147C>A ENSP00000512085.1:n.811-147C>A
ENST00000695655.1:c.592-111C>A ENSP00000512086.1:n.592-111C>A
ENST00000695692.1:n.1051-147C>A
ENST00000245907.11:c.1687-147C>A MANE Select ENSP00000245907.4:n.1687-147C>A
ENST00000245907.10:c.1687-147C>A ENSP00000245907.4:n.1687-147C>A
ENST00000600763.1:n.320-147C>A
NM_000064.3:c.1687-147C>A NP_000055.2:n.1687-147C>A
NM_000064.4:c.1687-147C>A MANE Select NP_000055.2:n.1687-147C>A