Canonical Allele Identifier: CA2587876929
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6709594-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709594T>G , CM000681.2:g.6709594T>G GRCh38
NC_000019.9:g.6709605T>G , CM000681.1:g.6709605T>G GRCh37
NC_000019.8:g.6660605T>G NCBI36
NG_009557.1:g.16058A>C , LRG_27:g.16058A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1722+90A>C ENSP00000512083.1:n.1722+90A>C
ENST00000695654.1:c.969+90A>C ENSP00000512085.1:n.969+90A>C
ENST00000695655.1:c.786+90A>C ENSP00000512086.1:n.786+90A>C
ENST00000695692.1:n.1209+90A>C
ENST00000245907.11:c.1845+90A>C MANE Select ENSP00000245907.4:n.1845+90A>C
ENST00000245907.10:c.1845+90A>C ENSP00000245907.4:n.1845+90A>C
NM_000064.3:c.1845+90A>C NP_000055.2:n.1845+90A>C
NM_000064.4:c.1845+90A>C MANE Select NP_000055.2:n.1845+90A>C
Search 100 bp 5'
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