Canonical Allele Identifier: CA386965032

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 2691843
• ClinVar RCV Id: RCV003494040
• MyVariant Identifiers: chr12:g.121431472A>G (hg19) ; chr12:g.120993669A>G (hg38)
• ERepo: CA386965032/MONDO:0015967/017

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120993669A>G , CM000674.2:g.120993669A>G	GRCh38
NC_000012.11:g.121431472A>G , CM000674.1:g.121431472A>G	GRCh37
NC_000012.10:g.119915855A>G	NCBI36
NG_011731.2:g.19924A>G , LRG_522:g.19924A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.676A>G	ENSP00000453965.2:p.Lys226Glu
ENST00000257555.11:c.676A>G MANE Select	ENSP00000257555.5:p.Lys226Glu
ENST00000257555.10:c.676A>G	ENSP00000257555.4:p.Lys226Glu
ENST00000400024.6:c.676A>G	ENSP00000476181.1:p.Lys226Glu
ENST00000402929.5:n.811A>G
ENST00000535955.5:n.43-3822A>G
ENST00000538626.2:n.191-3822A>G
ENST00000538646.5:c.527-495A>G	ENSP00000443964.1:n.527-495A>G
ENST00000540108.1:c.*116A>G	ENSP00000445445.1:n.*116A>G
ENST00000541395.5:c.676A>G	ENSP00000443112.1:p.Lys226Glu
ENST00000541924.5:c.676A>G	ENSP00000440361.1:p.Lys226Glu
ENST00000543427.5:c.633+43A>G	ENSP00000439721.2:n.633+43A>G
ENST00000544413.2:c.676A>G	ENSP00000438804.1:p.Lys226Glu
ENST00000544574.5:c.73-2948A>G	ENSP00000438565.1:n.73-2948A>G
ENST00000560968.5:c.819A>G
ENST00000615446.4:c.-257-2593A>G	ENSP00000483994.1:n.-257-2593A>G
ENST00000617366.4:c.586+90A>G	ENSP00000481967.1:n.586+90A>G
NM_000545.5:c.676A>G , LRG_522t1:c.676A>G	NP_000536.5:p.Lys226Glu
NM_000545.6:c.676A>G	NP_000536.5:p.Lys226Glu
NM_001306179.1:c.676A>G	NP_001293108.1:p.Lys226Glu
XM_005253931.2:c.676A>G	XP_005253988.1:p.Lys226Glu
XM_024449168.1:c.676A>G	XP_024304936.1:p.Lys226Glu
NM_000545.8:c.676A>G MANE Select	NP_000536.6:p.Lys226Glu
NM_001306179.2:c.676A>G	NP_001293108.2:p.Lys226Glu