Canonical Allele Identifier: CA386966874
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs267603344
gnomAD v4: 12-120994391-C-A
MyVariant Identifiers: chr12:g.121432194C>A (hg19) chr12:g.120994391C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994391C>A , CM000674.2:g.120994391C>A GRCh38
NC_000012.11:g.121432194C>A , CM000674.1:g.121432194C>A GRCh37
NC_000012.10:g.119916577C>A NCBI36
NG_011731.2:g.20646C>A , LRG_522:g.20646C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+191C>A ENSP00000453965.2:n.750+191C>A
ENST00000257555.11:c.941C>A MANE Select ENSP00000257555.5:p.Pro314His
ENST00000257555.10:c.941C>A ENSP00000257555.4:p.Pro314His
ENST00000400024.6:c.941C>A ENSP00000476181.1:p.Pro314His
ENST00000402929.5:n.1076C>A
ENST00000535955.5:n.43-3100C>A
ENST00000538626.2:n.191-3100C>A
ENST00000538646.5:c.754C>A ENSP00000443964.1:p.Pro252Thr
ENST00000540108.1:c.*381C>A ENSP00000445445.1:n.*381C>A
ENST00000541395.5:c.941C>A ENSP00000443112.1:p.Pro314His
ENST00000541924.5:c.713+685C>A ENSP00000440361.1:n.713+685C>A
ENST00000543427.5:c.633+765C>A ENSP00000439721.2:n.633+765C>A
ENST00000544413.2:c.941C>A ENSP00000438804.1:p.Pro314His
ENST00000544574.5:c.73-2226C>A ENSP00000438565.1:n.73-2226C>A
ENST00000560968.5:c.893+191C>A
ENST00000615446.4:c.-257-1871C>A ENSP00000483994.1:n.-257-1871C>A
ENST00000617366.4:c.586+812C>A ENSP00000481967.1:n.586+812C>A
NM_000545.5:c.941C>A , LRG_522t1:c.941C>A NP_000536.5:p.Pro314His
NM_000545.6:c.941C>A NP_000536.5:p.Pro314His
NM_001306179.1:c.941C>A NP_001293108.1:p.Pro314His
XM_005253931.2:c.941C>A XP_005253988.1:p.Pro314His
XM_024449168.1:c.941C>A XP_024304936.1:p.Pro314His
NM_000545.8:c.941C>A MANE Select NP_000536.6:p.Pro314His
NM_001306179.2:c.941C>A NP_001293108.2:p.Pro314His
Search 100 bp 5'
Search 100 bp 3'