Canonical Allele Identifier: CA386970395
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135848239
MyVariant Identifiers: chr12:g.121435463C>T (hg19) chr12:g.120997660C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*243C>T ENSP00000453965.2:n.*243C>T
ENST00000257555.11:c.1496C>T MANE Select ENSP00000257555.5:p.Pro499Leu
ENST00000257555.10:c.1496C>T ENSP00000257555.4:p.Pro499Leu
ENST00000400024.6:c.1496C>T ENSP00000476181.1:p.Pro499Leu
ENST00000402929.5:n.2362C>T
ENST00000535955.5:n.212C>T
ENST00000538626.2:n.360C>T
ENST00000538646.5:c.*472C>T ENSP00000443964.1:n.*472C>T
ENST00000540108.1:c.*936C>T ENSP00000445445.1:n.*936C>T
ENST00000541395.5:c.1496C>T ENSP00000443112.1:p.Pro499Leu
ENST00000541924.5:c.*510C>T ENSP00000440361.1:n.*510C>T
ENST00000543255.1:n.540C>T
ENST00000543427.5:c.959C>T ENSP00000439721.2:p.Pro320Leu
ENST00000544413.2:c.1496C>T ENSP00000438804.1:p.Pro499Leu
ENST00000544574.5:c.*259C>T ENSP00000438565.1:n.*259C>T
ENST00000560968.5:c.1313C>T
ENST00000615446.4:c.284C>T ENSP00000483994.1:p.Pro95Leu
ENST00000617366.4:c.613C>T ENSP00000481967.1:p.Pro205Ser
NM_000545.5:c.1496C>T , LRG_522t1:c.1496C>T NP_000536.5:p.Pro499Leu
NM_000545.6:c.1496C>T NP_000536.5:p.Pro499Leu
NM_001306179.1:c.1496C>T NP_001293108.1:p.Pro499Leu
XM_005253931.2:c.1496C>T XP_005253988.1:p.Pro499Leu
XM_024449168.1:c.1496C>T XP_024304936.1:p.Pro499Leu
NM_000545.8:c.1496C>T MANE Select NP_000536.6:p.Pro499Leu
NM_001306179.2:c.1496C>T NP_001293108.2:p.Pro499Leu
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