Allele Registry

Canonical Allele Identifier: CA12712940

Gene:

Linked Data

dbSNP:

10099338

gnomAD v2:

8:9257739 A / G

gnomAD v3:

8:9400229 A / G

gnomAD v4:

chr8-9400229-A-G

Joint Max Group AF 0.29323694 (AFR)

Genomes Max Group AF 0.29323694 (AFR)

MyVariant.info:

GRCh38 chr8:g.9400229A>G

GRCh37 chr8:g.9257739A>G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.9400229A>G , CM000670.2:g.9400229A>G	GRCh38
NC_000008.10:g.9257739A>G , CM000670.1:g.9257739A>G	GRCh37
NC_000008.9:g.9295149A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948936.1:n.185+3716T>C
XR_948940.1:n.96-3634A>G
XR_948941.1:n.96-13420A>G
XR_002956685.1:n.99-3634A>G
XR_948940.2:n.99-3634A>G
XR_948941.2:n.99-13420A>G

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