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: CA2286774128

Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 14933

ClinVar RCV Id: RCV001794450 RCV002225265

dbSNP Id: rs2135818776

ERepo: CA2286774128/MONDO:0015967/017

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120978486A>C , CM000674.2:g.120978486A>C	GRCh38
NC_000012.11:g.121416289A>C , CM000674.1:g.121416289A>C	GRCh37
NC_000012.10:g.119900672A>C	NCBI36
NG_011731.2:g.4741A>C , LRG_522:g.4741A>C

Transcript Alleles

HGVS	Amino-acid change
XM_005253931.2:c.-283A>C	XP_005253988.1:n.-283A>C
XM_024449168.1:c.-283A>C	XP_024304936.1:n.-283A>C

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