Canonical Allele Identifier: CA993075784
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1967948665
gnomAD v3: 19-6712849-C-T
gnomAD v4: 19-6712849-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6712849C>T , CM000681.2:g.6712849C>T GRCh38
NC_000019.9:g.6712860C>T , CM000681.1:g.6712860C>T GRCh37
NC_000019.8:g.6663860C>T NCBI36
NG_009557.1:g.12803G>A , LRG_27:g.12803G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.881-226G>A ENSP00000512083.1:n.881-226G>A
ENST00000695654.1:c.128-226G>A ENSP00000512085.1:n.128-226G>A
ENST00000695692.1:n.328-186G>A
ENST00000245907.11:c.1004-226G>A MANE Select ENSP00000245907.4:n.1004-226G>A
ENST00000245907.10:c.1004-226G>A ENSP00000245907.4:n.1004-226G>A
ENST00000594270.5:n.128-247G>A
ENST00000595577.1:n.508-226G>A
ENST00000597442.5:n.254-226G>A
NM_000064.3:c.1004-226G>A NP_000055.2:n.1004-226G>A
NM_000064.4:c.1004-226G>A MANE Select NP_000055.2:n.1004-226G>A