Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA166741126

Gene:

Linked Data

dbSNP Id: rs1023690146

gnomAD v2: 7-127878208-A-G

gnomAD v3: 7-128238155-A-G

gnomAD v4: 7-128238155-A-G

COSMIC: COSN9828408 COSN15406045

MyVariant Identifiers: chr7:g.127878208A>G (hg19) chr7:g.128238155A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128238155A>G , CM000669.2:g.128238155A>G	GRCh38
NC_000007.13:g.127878208A>G , CM000669.1:g.127878208A>G	GRCh37
NC_000007.12:g.127665444A>G	NCBI36
NG_007450.1:g.1878A>G

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