Canonical Allele Identifier: CA543450099
Gene: CFAP20DC-DT HGNC NCBI

Linked Data

dbSNP Id: rs1364488574
gnomAD v2: 3-59691218-C-G
gnomAD v3: 3-59705492-C-G
gnomAD v4: 3-59705492-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.59705492C>G , CM000665.2:g.59705492C>G GRCh38
NC_000003.11:g.59691218C>G , CM000665.1:g.59691218C>G GRCh37
NC_000003.10:g.59666258C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_002959675.1:n.1218-104240C>G