Canonical Allele Identifier: CA2320555698
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1918139793
gnomAD v4: 19-6690546-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6690546T>A , CM000681.2:g.6690546T>A GRCh38
NC_000019.9:g.6690557T>A , CM000681.1:g.6690557T>A GRCh37
NC_000019.8:g.6641557T>A NCBI36
NG_009557.1:g.35106A>T , LRG_27:g.35106A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1837+83A>T
ENST00000695652.1:c.3366+83A>T ENSP00000512083.1:n.3366+83A>T
ENST00000695653.1:c.1398+83A>T ENSP00000512084.1:n.1398+83A>T
ENST00000695654.1:c.2514+2378A>T ENSP00000512085.1:n.2514+2378A>T
ENST00000695655.1:c.2430+83A>T ENSP00000512086.1:n.2430+83A>T
ENST00000695692.1:n.2853+83A>T
ENST00000245907.11:c.3489+83A>T MANE Select ENSP00000245907.4:n.3489+83A>T
ENST00000245907.10:c.3489+83A>T ENSP00000245907.4:n.3489+83A>T
ENST00000598805.2:n.259+83A>T
ENST00000601008.1:c.84+83A>T ENSP00000471384.1:n.84+83A>T
NM_000064.3:c.3489+83A>T NP_000055.2:n.3489+83A>T
NM_000064.4:c.3489+83A>T MANE Select NP_000055.2:n.3489+83A>T