Canonical Allele Identifier: CA2621391102

Gene: HNF1A

Linked Data

• gnomAD v4: 12-120997441-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997441G>A , CM000674.2:g.120997441G>A	GRCh38
NC_000012.11:g.121435244G>A , CM000674.1:g.121435244G>A	GRCh37
NC_000012.10:g.119919627G>A	NCBI36
NG_011731.2:g.23696G>A , LRG_522:g.23696G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.*57-33G>A	ENSP00000453965.2:n.*57-33G>A
ENST00000257555.11:c.1310-33G>A MANE Select	ENSP00000257555.5:n.1310-33G>A
ENST00000257555.10:c.1310-33G>A	ENSP00000257555.4:n.1310-33G>A
ENST00000400024.6:c.1310-33G>A	ENSP00000476181.1:n.1310-33G>A
ENST00000402929.5:n.2143G>A
ENST00000535955.5:n.43-50G>A
ENST00000538626.2:n.191-50G>A
ENST00000538646.5:c.*286-33G>A	ENSP00000443964.1:n.*286-33G>A
ENST00000540108.1:c.*750-33G>A	ENSP00000445445.1:n.*750-33G>A
ENST00000541395.5:c.1310-33G>A	ENSP00000443112.1:n.1310-33G>A
ENST00000541924.5:c.*324-33G>A	ENSP00000440361.1:n.*324-33G>A
ENST00000543255.1:n.354-33G>A
ENST00000543427.5:c.773-33G>A	ENSP00000439721.2:n.773-33G>A
ENST00000544413.2:c.1310-33G>A	ENSP00000438804.1:n.1310-33G>A
ENST00000544574.5:c.*73-33G>A	ENSP00000438565.1:n.*73-33G>A
ENST00000560968.5:c.1127-33G>A
ENST00000615446.4:c.98-33G>A	ENSP00000483994.1:n.98-33G>A
ENST00000617366.4:c.587-193G>A	ENSP00000481967.1:n.587-193G>A
NM_000545.5:c.1310-33G>A , LRG_522t1:c.1310-33G>A	NP_000536.5:n.1310-33G>A
NM_000545.6:c.1310-33G>A	NP_000536.5:n.1310-33G>A
NM_001306179.1:c.1310-33G>A	NP_001293108.1:n.1310-33G>A
XM_005253931.2:c.1310-33G>A	XP_005253988.1:n.1310-33G>A
XM_024449168.1:c.1310-33G>A	XP_024304936.1:n.1310-33G>A
NM_000545.8:c.1310-33G>A MANE Select	NP_000536.6:n.1310-33G>A
NM_001306179.2:c.1310-33G>A	NP_001293108.2:n.1310-33G>A