Canonical Allele Identifier: CA543450133
Gene: CFAP20DC-DT HGNC NCBI

Linked Data

dbSNP Id: rs1289213774
gnomAD v2: 3-59691397-C-T
gnomAD v3: 3-59705671-C-T
gnomAD v4: 3-59705671-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.59705671C>T , CM000665.2:g.59705671C>T GRCh38
NC_000003.11:g.59691397C>T , CM000665.1:g.59691397C>T GRCh37
NC_000003.10:g.59666437C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_002959675.1:n.1218-104061C>T