Canonical Allele Identifier: CA244533889

Gene: HNF1A

Linked Data

• dbSNP Id: rs755693235
• gnomAD v2: 12-121433975-A-C
• gnomAD v3: 12-120996172-A-C
• gnomAD v4: 12-120996172-A-C
• MyVariant Identifiers: chr12:g.121433975A>C (hg19) ; chr12:g.120996172A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996172A>C , CM000674.2:g.120996172A>C	GRCh38
NC_000012.11:g.121433975A>C , CM000674.1:g.121433975A>C	GRCh37
NC_000012.10:g.119918358A>C	NCBI36
NG_011731.2:g.22427A>C , LRG_522:g.22427A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.751-211A>C	ENSP00000453965.2:n.751-211A>C
ENST00000257555.11:c.956-90A>C MANE Select	ENSP00000257555.5:n.956-90A>C
ENST00000257555.10:c.956-90A>C	ENSP00000257555.4:n.956-90A>C
ENST00000400024.6:c.956-90A>C	ENSP00000476181.1:n.956-90A>C
ENST00000402929.5:n.1091-90A>C
ENST00000535955.5:n.43-1319A>C
ENST00000538626.2:n.191-1319A>C
ENST00000538646.5:c.769-90A>C	ENSP00000443964.1:n.769-90A>C
ENST00000540108.1:c.*396-90A>C	ENSP00000445445.1:n.*396-90A>C
ENST00000541395.5:c.956-90A>C	ENSP00000443112.1:n.956-90A>C
ENST00000541924.5:c.714-90A>C	ENSP00000440361.1:n.714-90A>C
ENST00000543427.5:c.634-432A>C	ENSP00000439721.2:n.634-432A>C
ENST00000544413.2:c.956-90A>C	ENSP00000438804.1:n.956-90A>C
ENST00000544574.5:c.73-445A>C	ENSP00000438565.1:n.73-445A>C
ENST00000560968.5:c.894-211A>C
ENST00000615446.4:c.-257-90A>C	ENSP00000483994.1:n.-257-90A>C
ENST00000617366.4:c.587-1462A>C	ENSP00000481967.1:n.587-1462A>C
NM_000545.5:c.956-90A>C , LRG_522t1:c.956-90A>C	NP_000536.5:n.956-90A>C
NM_000545.6:c.956-90A>C	NP_000536.5:n.956-90A>C
NM_001306179.1:c.956-90A>C	NP_001293108.1:n.956-90A>C
XM_005253931.2:c.956-90A>C	XP_005253988.1:n.956-90A>C
XM_024449168.1:c.956-90A>C	XP_024304936.1:n.956-90A>C
NM_000545.8:c.956-90A>C MANE Select	NP_000536.6:n.956-90A>C
NM_001306179.2:c.956-90A>C	NP_001293108.2:n.956-90A>C