Canonical Allele Identifier: CA993073197
Gene: C3 HGNC NCBI

Linked Data

gnomAD v3: 19-6709951-C-G
gnomAD v4: 19-6709951-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709951C>G , CM000681.2:g.6709951C>G GRCh38
NC_000019.9:g.6709962C>G , CM000681.1:g.6709962C>G GRCh37
NC_000019.8:g.6660962C>G NCBI36
NG_009557.1:g.15701G>C , LRG_27:g.15701G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1564-109G>C ENSP00000512083.1:n.1564-109G>C
ENST00000695654.1:c.811-109G>C ENSP00000512085.1:n.811-109G>C
ENST00000695655.1:c.592-73G>C ENSP00000512086.1:n.592-73G>C
ENST00000695692.1:n.1051-109G>C
ENST00000245907.11:c.1687-109G>C MANE Select ENSP00000245907.4:n.1687-109G>C
ENST00000245907.10:c.1687-109G>C ENSP00000245907.4:n.1687-109G>C
ENST00000600763.1:n.320-109G>C
NM_000064.3:c.1687-109G>C NP_000055.2:n.1687-109G>C
NM_000064.4:c.1687-109G>C MANE Select NP_000055.2:n.1687-109G>C