Canonical Allele Identifier: CA482431072

Gene: HNF1A

Linked Data

• dbSNP Id: rs1294496946
• gnomAD v2: 12-121432000-A-T
• gnomAD v4: 12-120994197-A-T
• MyVariant Identifiers: chr12:g.121432000A>T (hg19) ; chr12:g.120994197A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120994197A>T , CM000674.2:g.120994197A>T	GRCh38
NC_000012.11:g.121432000A>T , CM000674.1:g.121432000A>T	GRCh37
NC_000012.10:g.119916383A>T	NCBI36
NG_011731.2:g.20452A>T , LRG_522:g.20452A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.747A>T	ENSP00000453965.2:p.Ser249=
ENST00000257555.11:c.747A>T MANE Select	ENSP00000257555.5:p.Ser249=
ENST00000257555.10:c.747A>T	ENSP00000257555.4:p.Ser249=
ENST00000400024.6:c.747A>T	ENSP00000476181.1:p.Ser249=
ENST00000402929.5:n.882A>T
ENST00000535955.5:n.43-3294A>T
ENST00000538626.2:n.191-3294A>T
ENST00000538646.5:c.560A>T	ENSP00000443964.1:p.His187Leu
ENST00000540108.1:c.*187A>T	ENSP00000445445.1:n.*187A>T
ENST00000541395.5:c.747A>T	ENSP00000443112.1:p.Ser249=
ENST00000541924.5:c.713+491A>T	ENSP00000440361.1:n.713+491A>T
ENST00000543427.5:c.633+571A>T	ENSP00000439721.2:n.633+571A>T
ENST00000544413.2:c.747A>T	ENSP00000438804.1:p.Ser249=
ENST00000544574.5:c.73-2420A>T	ENSP00000438565.1:n.73-2420A>T
ENST00000560968.5:c.890A>T
ENST00000615446.4:c.-257-2065A>T	ENSP00000483994.1:n.-257-2065A>T
ENST00000617366.4:c.586+618A>T	ENSP00000481967.1:n.586+618A>T
NM_000545.5:c.747A>T , LRG_522t1:c.747A>T	NP_000536.5:p.Ser249=
NM_000545.6:c.747A>T	NP_000536.5:p.Ser249=
NM_001306179.1:c.747A>T	NP_001293108.1:p.Ser249=
XM_005253931.2:c.747A>T	XP_005253988.1:p.Ser249=
XM_024449168.1:c.747A>T	XP_024304936.1:p.Ser249=
NM_000545.8:c.747A>T MANE Select	NP_000536.6:p.Ser249=
NM_001306179.2:c.747A>T	NP_001293108.2:p.Ser249=