Canonical Allele Identifier: CA9129648
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs751541785
gnomAD v2: 19-6713411-A-G
gnomAD v4: 19-6713400-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713400A>G , CM000681.2:g.6713400A>G GRCh38
NC_000019.9:g.6713411A>G , CM000681.1:g.6713411A>G GRCh37
NC_000019.8:g.6664411A>G NCBI36
NG_009557.1:g.12252T>C , LRG_27:g.12252T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.753+7T>C ENSP00000512083.1:n.753+7T>C
ENST00000695692.1:n.200+7T>C
ENST00000245907.11:c.876+7T>C MANE Select ENSP00000245907.4:n.876+7T>C
ENST00000245907.10:c.876+7T>C ENSP00000245907.4:n.876+7T>C
ENST00000595577.1:n.380+7T>C
ENST00000597442.5:n.126+7T>C
NM_000064.3:c.876+7T>C NP_000055.2:n.876+7T>C
NM_000064.4:c.876+7T>C MANE Select NP_000055.2:n.876+7T>C