Canonical Allele Identifier: CA952551043

Gene: HNF1A

Linked Data

• dbSNP Id: rs1877166116
• gnomAD v3: 12-120997436-C-G
• gnomAD v4: 12-120997436-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997436C>G , CM000674.2:g.120997436C>G	GRCh38
NC_000012.11:g.121435239C>G , CM000674.1:g.121435239C>G	GRCh37
NC_000012.10:g.119919622C>G	NCBI36
NG_011731.2:g.23691C>G , LRG_522:g.23691C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.*57-38C>G	ENSP00000453965.2:n.*57-38C>G
ENST00000257555.11:c.1310-38C>G MANE Select	ENSP00000257555.5:n.1310-38C>G
ENST00000257555.10:c.1310-38C>G	ENSP00000257555.4:n.1310-38C>G
ENST00000400024.6:c.1310-38C>G	ENSP00000476181.1:n.1310-38C>G
ENST00000402929.5:n.2138C>G
ENST00000535955.5:n.43-55C>G
ENST00000538626.2:n.191-55C>G
ENST00000538646.5:c.*286-38C>G	ENSP00000443964.1:n.*286-38C>G
ENST00000540108.1:c.*750-38C>G	ENSP00000445445.1:n.*750-38C>G
ENST00000541395.5:c.1310-38C>G	ENSP00000443112.1:n.1310-38C>G
ENST00000541924.5:c.*324-38C>G	ENSP00000440361.1:n.*324-38C>G
ENST00000543255.1:n.354-38C>G
ENST00000543427.5:c.773-38C>G	ENSP00000439721.2:n.773-38C>G
ENST00000544413.2:c.1310-38C>G	ENSP00000438804.1:n.1310-38C>G
ENST00000544574.5:c.*73-38C>G	ENSP00000438565.1:n.*73-38C>G
ENST00000560968.5:c.1127-38C>G
ENST00000615446.4:c.98-38C>G	ENSP00000483994.1:n.98-38C>G
ENST00000617366.4:c.587-198C>G	ENSP00000481967.1:n.587-198C>G
NM_000545.5:c.1310-38C>G , LRG_522t1:c.1310-38C>G	NP_000536.5:n.1310-38C>G
NM_000545.6:c.1310-38C>G	NP_000536.5:n.1310-38C>G
NM_001306179.1:c.1310-38C>G	NP_001293108.1:n.1310-38C>G
XM_005253931.2:c.1310-38C>G	XP_005253988.1:n.1310-38C>G
XM_024449168.1:c.1310-38C>G	XP_024304936.1:n.1310-38C>G
NM_000545.8:c.1310-38C>G MANE Select	NP_000536.6:n.1310-38C>G
NM_001306179.2:c.1310-38C>G	NP_001293108.2:n.1310-38C>G