Canonical Allele Identifier: CA482165168

Gene: HNF1A

Linked Data

• gnomAD v4: 12-120997541-G-T
• MyVariant Identifiers: chr12:g.121435344G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997541G>T , CM000674.2:g.120997541G>T	GRCh38
NC_000012.11:g.121435344G>T , CM000674.1:g.121435344G>T	GRCh37
NC_000012.10:g.119919727G>T	NCBI36
NG_011731.2:g.23796G>T , LRG_522:g.23796G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.*124G>T	ENSP00000453965.2:n.*124G>T
ENST00000257555.11:c.1377G>T MANE Select	ENSP00000257555.5:p.Leu459=
ENST00000257555.10:c.1377G>T	ENSP00000257555.4:p.Leu459=
ENST00000400024.6:c.1377G>T	ENSP00000476181.1:p.Leu459=
ENST00000402929.5:n.2243G>T
ENST00000535955.5:n.93G>T
ENST00000538626.2:n.241G>T
ENST00000538646.5:c.*353G>T	ENSP00000443964.1:n.*353G>T
ENST00000540108.1:c.*817G>T	ENSP00000445445.1:n.*817G>T
ENST00000541395.5:c.1377G>T	ENSP00000443112.1:p.Leu459=
ENST00000541924.5:c.*391G>T	ENSP00000440361.1:n.*391G>T
ENST00000543255.1:n.421G>T
ENST00000543427.5:c.840G>T	ENSP00000439721.2:p.Leu280=
ENST00000544413.2:c.1377G>T	ENSP00000438804.1:p.Leu459=
ENST00000544574.5:c.*140G>T	ENSP00000438565.1:n.*140G>T
ENST00000560968.5:c.1194G>T
ENST00000615446.4:c.165G>T	ENSP00000483994.1:p.Leu55=
ENST00000617366.4:c.587-93G>T	ENSP00000481967.1:n.587-93G>T
NM_000545.5:c.1377G>T , LRG_522t1:c.1377G>T	NP_000536.5:p.Leu459=
NM_000545.6:c.1377G>T	NP_000536.5:p.Leu459=
NM_001306179.1:c.1377G>T	NP_001293108.1:p.Leu459=
XM_005253931.2:c.1377G>T	XP_005253988.1:p.Leu459=
XM_024449168.1:c.1377G>T	XP_024304936.1:p.Leu459=
NM_000545.8:c.1377G>T MANE Select	NP_000536.6:p.Leu459=
NM_001306179.2:c.1377G>T	NP_001293108.2:p.Leu459=