Allele Registry

Canonical Allele Identifier: CA15001664

Gene:

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chrX:g.8426212A>G

GRCh37 chrX:g.8394253A>G

Linked Data - Sequence & Population

gnomAD v2:

X:8394253 A / G

gnomAD v3:

X:8426212 A / G

gnomAD v4:

chrX-8426212-A-G

Joint Max Group AF 0.73588431 (AFR)

Genomes Max Group AF 0.73588431 (AFR)

Linked Data - NCBI & NCI

dbSNP:

7892812

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8426212A>G , CM000685.2:g.8426212A>G	GRCh38
NC_000023.10:g.8394253A>G , CM000685.1:g.8394253A>G	GRCh37
NC_000023.9:g.8354253A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001755782.1:n.1478-13616A>G
XR_001755783.1:n.5717+886A>G
XR_001755784.1:n.1478-13616A>G
XR_001755785.1:n.1478-13616A>G
XR_001755786.1:n.1478-28603A>G
XR_001755787.1:n.1478-13616A>G
XR_001755790.1:n.162-13616A>G

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