Canonical Allele Identifier: CA2587876875
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6709564-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709564C>G , CM000681.2:g.6709564C>G GRCh38
NC_000019.9:g.6709575C>G , CM000681.1:g.6709575C>G GRCh37
NC_000019.8:g.6660575C>G NCBI36
NG_009557.1:g.16088G>C , LRG_27:g.16088G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000695652.1:c.1722+120G>C ENSP00000512083.1:n.1722+120G>C
ENST00000695654.1:c.969+120G>C ENSP00000512085.1:n.969+120G>C
ENST00000695655.1:c.786+120G>C ENSP00000512086.1:n.786+120G>C
ENST00000695692.1:n.1209+120G>C
ENST00000245907.11:c.1845+120G>C MANE Select ENSP00000245907.4:n.1845+120G>C
ENST00000245907.10:c.1845+120G>C ENSP00000245907.4:n.1845+120G>C
NM_000064.3:c.1845+120G>C NP_000055.2:n.1845+120G>C
NM_000064.4:c.1845+120G>C MANE Select NP_000055.2:n.1845+120G>C
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