Allele Registry

Canonical Allele Identifier: CA10908583

Gene:

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.161494024T>C

GRCh37 chr1:g.161463814T>C

Linked Data - Sequence & Population

gnomAD v2:

1:161463814 T / C

gnomAD v3:

1:161494024 T / C

gnomAD v4:

chr1-161494024-T-C

Joint Max Group AF 0.76154046 (NFE)

Genomes Max Group AF 0.76154046 (NFE)

Linked Data - NCBI & NCI

dbSNP:

6696854

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161494024T>C , CM000663.2:g.161494024T>C	GRCh38
NC_000001.10:g.161463814T>C , CM000663.1:g.161463814T>C	GRCh37
NC_000001.9:g.159730438T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922214.1:n.2011+405T>C
XR_922214.2:n.2960+405T>C

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