Canonical Allele Identifier: CA304807352
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1048020502
gnomAD v2: 19-6722553-T-C
gnomAD v3: 19-6722542-T-C
gnomAD v4: 19-6722542-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6722542T>C , CM000681.2:g.6722542T>C GRCh38
NC_000019.9:g.6722553T>C , CM000681.1:g.6722553T>C GRCh37
NC_000019.8:g.6673553T>C NCBI36
NG_009557.1:g.3110A>G , LRG_27:g.3110A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000600744.1:c.-50+899A>G ENSP00000472044.1:n.-50+899A>G