Canonical Allele Identifier: CA2582310848
Gene: C3 HGNC NCBI

Linked Data

gnomAD v3: 19-6709960-G-A
gnomAD v4: 19-6709960-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709960G>A , CM000681.2:g.6709960G>A GRCh38
NC_000019.9:g.6709971G>A , CM000681.1:g.6709971G>A GRCh37
NC_000019.8:g.6660971G>A NCBI36
NG_009557.1:g.15692C>T , LRG_27:g.15692C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1564-118C>T ENSP00000512083.1:n.1564-118C>T
ENST00000695654.1:c.811-118C>T ENSP00000512085.1:n.811-118C>T
ENST00000695655.1:c.592-82C>T ENSP00000512086.1:n.592-82C>T
ENST00000695692.1:n.1051-118C>T
ENST00000245907.11:c.1687-118C>T MANE Select ENSP00000245907.4:n.1687-118C>T
ENST00000245907.10:c.1687-118C>T ENSP00000245907.4:n.1687-118C>T
ENST00000600763.1:n.320-118C>T
NM_000064.3:c.1687-118C>T NP_000055.2:n.1687-118C>T
NM_000064.4:c.1687-118C>T MANE Select NP_000055.2:n.1687-118C>T