Canonical Allele Identifier: CA386970396
Gene: HNF1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121435463C>G (hg19) chr12:g.120997660C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997660C>G , CM000674.2:g.120997660C>G GRCh38
NC_000012.11:g.121435463C>G , CM000674.1:g.121435463C>G GRCh37
NC_000012.10:g.119919846C>G NCBI36
NG_011731.2:g.23915C>G , LRG_522:g.23915C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*243C>G ENSP00000453965.2:n.*243C>G
ENST00000257555.11:c.1496C>G MANE Select ENSP00000257555.5:p.Pro499Arg
ENST00000257555.10:c.1496C>G ENSP00000257555.4:p.Pro499Arg
ENST00000400024.6:c.1496C>G ENSP00000476181.1:p.Pro499Arg
ENST00000402929.5:n.2362C>G
ENST00000535955.5:n.212C>G
ENST00000538626.2:n.360C>G
ENST00000538646.5:c.*472C>G ENSP00000443964.1:n.*472C>G
ENST00000540108.1:c.*936C>G ENSP00000445445.1:n.*936C>G
ENST00000541395.5:c.1496C>G ENSP00000443112.1:p.Pro499Arg
ENST00000541924.5:c.*510C>G ENSP00000440361.1:n.*510C>G
ENST00000543255.1:n.540C>G
ENST00000543427.5:c.959C>G ENSP00000439721.2:p.Pro320Arg
ENST00000544413.2:c.1496C>G ENSP00000438804.1:p.Pro499Arg
ENST00000544574.5:c.*259C>G ENSP00000438565.1:n.*259C>G
ENST00000560968.5:c.1313C>G
ENST00000615446.4:c.284C>G ENSP00000483994.1:p.Pro95Arg
ENST00000617366.4:c.613C>G ENSP00000481967.1:p.Pro205Ala
NM_000545.5:c.1496C>G , LRG_522t1:c.1496C>G NP_000536.5:p.Pro499Arg
NM_000545.6:c.1496C>G NP_000536.5:p.Pro499Arg
NM_001306179.1:c.1496C>G NP_001293108.1:p.Pro499Arg
XM_005253931.2:c.1496C>G XP_005253988.1:p.Pro499Arg
XM_024449168.1:c.1496C>G XP_024304936.1:p.Pro499Arg
NM_000545.8:c.1496C>G MANE Select NP_000536.6:p.Pro499Arg
NM_001306179.2:c.1496C>G NP_001293108.2:p.Pro499Arg
Search 100 bp 5'
Search 100 bp 3'