Canonical Allele Identifier: CA16609261

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 393434
• ClinVar RCV Id: RCV000445512 ; RCV002463446
• dbSNP Id: rs1057524898
• MyVariant Identifiers: chr12:g.121431412T>A (hg19) ; chr12:g.120993609T>A (hg38)
• ERepo: CA16609261/MONDO:0015967/017

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120993609T>A , CM000674.2:g.120993609T>A	GRCh38
NC_000012.11:g.121431412T>A , CM000674.1:g.121431412T>A	GRCh37
NC_000012.10:g.119915795T>A	NCBI36
NG_011731.2:g.19864T>A , LRG_522:g.19864T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.616T>A	ENSP00000453965.2:p.Trp206Arg
ENST00000257555.11:c.616T>A MANE Select	ENSP00000257555.5:p.Trp206Arg
ENST00000257555.10:c.616T>A	ENSP00000257555.4:p.Trp206Arg
ENST00000400024.6:c.616T>A	ENSP00000476181.1:p.Trp206Arg
ENST00000402929.5:n.751T>A
ENST00000535955.5:n.43-3882T>A
ENST00000538626.2:n.191-3882T>A
ENST00000538646.5:c.527-555T>A	ENSP00000443964.1:n.527-555T>A
ENST00000540108.1:c.*56T>A	ENSP00000445445.1:n.*56T>A
ENST00000541395.5:c.616T>A	ENSP00000443112.1:p.Trp206Arg
ENST00000541924.5:c.616T>A	ENSP00000440361.1:p.Trp206Arg
ENST00000543427.5:c.616T>A	ENSP00000439721.2:p.Trp206Arg
ENST00000544413.2:c.616T>A	ENSP00000438804.1:p.Trp206Arg
ENST00000544574.5:c.73-3008T>A	ENSP00000438565.1:n.73-3008T>A
ENST00000560968.5:c.759T>A
ENST00000615446.4:c.-257-2653T>A	ENSP00000483994.1:n.-257-2653T>A
ENST00000617366.4:c.586+30T>A	ENSP00000481967.1:n.586+30T>A
NM_000545.5:c.616T>A , LRG_522t1:c.616T>A	NP_000536.5:p.Trp206Arg
NM_000545.6:c.616T>A	NP_000536.5:p.Trp206Arg
NM_001306179.1:c.616T>A	NP_001293108.1:p.Trp206Arg
XM_005253931.2:c.616T>A	XP_005253988.1:p.Trp206Arg
XM_024449168.1:c.616T>A	XP_024304936.1:p.Trp206Arg
NM_000545.8:c.616T>A MANE Select	NP_000536.6:p.Trp206Arg
NM_001306179.2:c.616T>A	NP_001293108.2:p.Trp206Arg