Canonical Allele Identifier: CA2587875397
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6697313-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6697313A>G , CM000681.2:g.6697313A>G GRCh38
NC_000019.9:g.6697324A>G , CM000681.1:g.6697324A>G GRCh37
NC_000019.8:g.6648324A>G NCBI36
NG_009557.1:g.28339T>C , LRG_27:g.28339T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1144+31T>C
ENST00000695652.1:c.2673+31T>C ENSP00000512083.1:n.2673+31T>C
ENST00000695653.1:c.705+31T>C ENSP00000512084.1:n.705+31T>C
ENST00000695654.1:c.1920+31T>C ENSP00000512085.1:n.1920+31T>C
ENST00000695655.1:c.1737+31T>C ENSP00000512086.1:n.1737+31T>C
ENST00000695692.1:n.2160+31T>C
ENST00000245907.11:c.2796+31T>C MANE Select ENSP00000245907.4:n.2796+31T>C
ENST00000245907.10:c.2796+31T>C ENSP00000245907.4:n.2796+31T>C
ENST00000594005.1:n.372+31T>C
NM_000064.3:c.2796+31T>C NP_000055.2:n.2796+31T>C
NM_000064.4:c.2796+31T>C MANE Select NP_000055.2:n.2796+31T>C