Allele Registry

Canonical Allele Identifier: CA15188932

Gene: SLC8A1-AS1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr2:g.39954377G>A

GRCh37 chr2:g.40181517G>A

Linked Data - Sequence & Population

gnomAD v2:

2:40181517 G / A

gnomAD v3:

2:39954377 G / A

gnomAD v4:

chr2-39954377-G-A

Joint Max Group AF 0.11609741 (NFE)

Genomes Max Group AF 0.11609741 (NFE)

Linked Data - NCBI & NCI

dbSNP:

75847378

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39954377G>A , CM000664.2:g.39954377G>A	GRCh38
NC_000002.11:g.40181517G>A , CM000664.1:g.40181517G>A	GRCh37
NC_000002.10:g.40035021G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_038441.1:n.67+31488G>A

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