Allele Registry

Canonical Allele Identifier: CA11473872

Gene: CFAP20DC-DT HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr3:g.59673932G>A

GRCh37 chr3:g.59659658G>A

Linked Data - Sequence & Population

gnomAD v2:

3:59659658 G / A

gnomAD v3:

3:59673932 G / A

gnomAD v4:

chr3-59673932-G-A

Joint Max Group AF 0.4534542 (NFE)

Genomes Max Group AF 0.4534542 (NFE)

Linked Data - NCBI & NCI

dbSNP:

1550922

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.59673932G>A , CM000665.2:g.59673932G>A	GRCh38
NC_000003.11:g.59659658G>A , CM000665.1:g.59659658G>A	GRCh37
NC_000003.10:g.59634698G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_002959675.1:n.1218-135800G>A

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