Canonical Allele Identifier: CA2573051029
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1676714
ClinVar RCV Id: RCV002222111
dbSNP Id: rs2135818767

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120978483_120978484del , CM000674.2:g.120978483_120978484del GRCh38
NC_000012.11:g.121416286_121416287del , CM000674.1:g.121416286_121416287del GRCh37
NC_000012.10:g.119900669_119900670del NCBI36
NG_011731.2:g.4738_4739del , LRG_522:g.4738_4739del

Transcript Alleles

HGVS Amino-acid Change
XM_005253931.2:c.-286_-285del XP_005253988.1:n.-286_-285del
XM_024449168.1:c.-286_-285del XP_024304936.1:n.-286_-285del