Canonical Allele Identifier: CA884148682
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1209287299
gnomAD v3: 19-6709971-G-A
gnomAD v4: 19-6709971-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709971G>A , CM000681.2:g.6709971G>A GRCh38
NC_000019.9:g.6709982G>A , CM000681.1:g.6709982G>A GRCh37
NC_000019.8:g.6660982G>A NCBI36
NG_009557.1:g.15681C>T , LRG_27:g.15681C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1564-129C>T ENSP00000512083.1:n.1564-129C>T
ENST00000695654.1:c.811-129C>T ENSP00000512085.1:n.811-129C>T
ENST00000695655.1:c.592-93C>T ENSP00000512086.1:n.592-93C>T
ENST00000695692.1:n.1051-129C>T
ENST00000245907.11:c.1687-129C>T MANE Select ENSP00000245907.4:n.1687-129C>T
ENST00000245907.10:c.1687-129C>T ENSP00000245907.4:n.1687-129C>T
ENST00000600763.1:n.320-129C>T
NM_000064.3:c.1687-129C>T NP_000055.2:n.1687-129C>T
NM_000064.4:c.1687-129C>T MANE Select NP_000055.2:n.1687-129C>T