Canonical Allele Identifier: CA2067677970

Gene: HNF1A

Linked Data

• dbSNP Id: rs1876923482
• gnomAD v4: 12-120993388-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120993388T>C , CM000674.2:g.120993388T>C	GRCh38
NC_000012.11:g.121431191T>C , CM000674.1:g.121431191T>C	GRCh37
NC_000012.10:g.119915574T>C	NCBI36
NG_011731.2:g.19643T>C , LRG_522:g.19643T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.527-132T>C	ENSP00000453965.2:n.527-132T>C
ENST00000257555.11:c.527-132T>C MANE Select	ENSP00000257555.5:n.527-132T>C
ENST00000257555.10:c.527-132T>C	ENSP00000257555.4:n.527-132T>C
ENST00000400024.6:c.527-132T>C	ENSP00000476181.1:n.527-132T>C
ENST00000402929.5:n.662-132T>C
ENST00000535955.5:n.43-4103T>C
ENST00000538626.2:n.191-4103T>C
ENST00000538646.5:c.527-776T>C	ENSP00000443964.1:n.527-776T>C
ENST00000540108.1:c.327-132T>C	ENSP00000445445.1:n.327-132T>C
ENST00000541395.5:c.527-132T>C	ENSP00000443112.1:n.527-132T>C
ENST00000541924.5:c.527-132T>C	ENSP00000440361.1:n.527-132T>C
ENST00000543427.5:c.527-132T>C	ENSP00000439721.2:n.527-132T>C
ENST00000544413.2:c.527-132T>C	ENSP00000438804.1:n.527-132T>C
ENST00000544574.5:c.73-3229T>C	ENSP00000438565.1:n.73-3229T>C
ENST00000560968.5:c.670-132T>C
ENST00000615446.4:c.-257-2874T>C	ENSP00000483994.1:n.-257-2874T>C
ENST00000617366.4:c.527-132T>C	ENSP00000481967.1:n.527-132T>C
NM_000545.5:c.527-132T>C , LRG_522t1:c.527-132T>C	NP_000536.5:n.527-132T>C
NM_000545.6:c.527-132T>C	NP_000536.5:n.527-132T>C
NM_001306179.1:c.527-132T>C	NP_001293108.1:n.527-132T>C
XM_005253931.2:c.527-132T>C	XP_005253988.1:n.527-132T>C
XM_024449168.1:c.527-132T>C	XP_024304936.1:n.527-132T>C
NM_000545.8:c.527-132T>C MANE Select	NP_000536.6:n.527-132T>C
NM_001306179.2:c.527-132T>C	NP_001293108.2:n.527-132T>C