Canonical Allele Identifier: CA2576591811
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6681887-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6681887A>G , CM000681.2:g.6681887A>G GRCh38
NC_000019.9:g.6681898A>G , CM000681.1:g.6681898A>G GRCh37
NC_000019.8:g.6632898A>G NCBI36
NG_009557.1:g.43765T>C , LRG_27:g.43765T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2698+54T>C
ENST00000695653.1:c.2259+54T>C ENSP00000512084.1:n.2259+54T>C
ENST00000695654.1:c.3375+54T>C ENSP00000512085.1:n.3375+54T>C
ENST00000695689.1:c.321+54T>C ENSP00000512101.1:n.321+54T>C
ENST00000695690.1:n.595T>C
ENST00000695691.1:n.595T>C
ENST00000245907.11:c.4350+54T>C MANE Select ENSP00000245907.4:n.4350+54T>C
ENST00000245907.10:c.4350+54T>C ENSP00000245907.4:n.4350+54T>C
ENST00000596548.1:c.471+54T>C ENSP00000469744.1:n.471+54T>C
ENST00000599899.5:n.1309+54T>C
ENST00000601008.1:c.242-3929T>C ENSP00000471384.1:n.242-3929T>C
NM_000064.3:c.4350+54T>C NP_000055.2:n.4350+54T>C
NM_000064.4:c.4350+54T>C MANE Select NP_000055.2:n.4350+54T>C