Canonical Allele Identifier: CA6831929

Gene: HNF1A

Linked Data

• dbSNP Id: rs374946507
• ExAC: 12:121434226 C / T
• gnomAD v2: 12-121434226-C-T
• gnomAD v4: 12-120996423-C-T
• MyVariant Identifiers: chr12:g.121434226C>T (hg19) ; chr12:g.120996423C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996423C>T , CM000674.2:g.120996423C>T	GRCh38
NC_000012.11:g.121434226C>T , CM000674.1:g.121434226C>T	GRCh37
NC_000012.10:g.119918609C>T	NCBI36
NG_011731.2:g.22678C>T , LRG_522:g.22678C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.781+10C>T	ENSP00000453965.2:n.781+10C>T
ENST00000257555.11:c.1107+10C>T MANE Select	ENSP00000257555.5:n.1107+10C>T
ENST00000257555.10:c.1107+10C>T	ENSP00000257555.4:n.1107+10C>T
ENST00000400024.6:c.1107+10C>T	ENSP00000476181.1:n.1107+10C>T
ENST00000402929.5:n.1242+10C>T
ENST00000535955.5:n.43-1068C>T
ENST00000538626.2:n.191-1068C>T
ENST00000538646.5:c.*83+10C>T	ENSP00000443964.1:n.*83+10C>T
ENST00000540108.1:c.*547+10C>T	ENSP00000445445.1:n.*547+10C>T
ENST00000541395.5:c.1107+10C>T	ENSP00000443112.1:n.1107+10C>T
ENST00000541924.5:c.*121+10C>T	ENSP00000440361.1:n.*121+10C>T
ENST00000543255.1:n.34C>T
ENST00000543427.5:c.634-181C>T	ENSP00000439721.2:n.634-181C>T
ENST00000544413.2:c.1107+10C>T	ENSP00000438804.1:n.1107+10C>T
ENST00000544574.5:c.73-194C>T	ENSP00000438565.1:n.73-194C>T
ENST00000560968.5:c.924+10C>T
ENST00000615446.4:c.-106+10C>T	ENSP00000483994.1:n.-106+10C>T
ENST00000617366.4:c.587-1211C>T	ENSP00000481967.1:n.587-1211C>T
NM_000545.5:c.1107+10C>T , LRG_522t1:c.1107+10C>T	NP_000536.5:n.1107+10C>T
NM_000545.6:c.1107+10C>T	NP_000536.5:n.1107+10C>T
NM_001306179.1:c.1107+10C>T	NP_001293108.1:n.1107+10C>T
XM_005253931.2:c.1107+10C>T	XP_005253988.1:n.1107+10C>T
XM_024449168.1:c.1107+10C>T	XP_024304936.1:n.1107+10C>T
NM_000545.8:c.1107+10C>T MANE Select	NP_000536.6:n.1107+10C>T
NM_001306179.2:c.1107+10C>T	NP_001293108.2:n.1107+10C>T