Canonical Allele Identifier: CA2587878654
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6714100-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714100T>G , CM000681.2:g.6714100T>G GRCh38
NC_000019.9:g.6714111T>G , CM000681.1:g.6714111T>G GRCh37
NC_000019.8:g.6665111T>G NCBI36
NG_009557.1:g.11552A>C , LRG_27:g.11552A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.560-18A>C ENSP00000512083.1:n.560-18A>C
ENST00000245907.11:c.683-18A>C MANE Select ENSP00000245907.4:n.683-18A>C
ENST00000245907.10:c.683-18A>C ENSP00000245907.4:n.683-18A>C
ENST00000595577.1:n.187-18A>C
NM_000064.3:c.683-18A>C NP_000055.2:n.683-18A>C
NM_000064.4:c.683-18A>C MANE Select NP_000055.2:n.683-18A>C
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