Allele Registry

Canonical Allele Identifier: CA170720

Gene:

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr6:g.151630085A>G

GRCh37 chr6:g.151951220A>G

Linked Data - Sequence & Population

gnomAD v2:

6:151951220 A / G

gnomAD v3:

6:151630085 A / G

gnomAD v4:

chr6-151630085-A-G

Joint Max Group AF 0.28917329 (EAS)

Genomes Max Group AF 0.28917329 (EAS)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000143995

ClinVar Variation:

155878

dbSNP:

9397435

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151630085A>G , CM000668.2:g.151630085A>G	GRCh38
NC_000006.11:g.151951220A>G , CM000668.1:g.151951220A>G	GRCh37
NC_000006.10:g.151992913A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_943113.1:n.2496+103A>G
XR_943115.1:n.2496+103A>G

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