Canonical Allele Identifier: CA684444610

Gene: HNF1A

Linked Data

• dbSNP Id: rs748614174
• gnomAD v3: 12-120983017-A-C
• gnomAD v4: 12-120983017-A-C
• MyVariant Identifiers: chr12:g.121420820A>C (hg19) ; chr12:g.120983017A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120983017A>C , CM000674.2:g.120983017A>C	GRCh38
NC_000012.11:g.121420820A>C , CM000674.1:g.121420820A>C	GRCh37
NC_000012.10:g.119905203A>C	NCBI36
NG_011731.2:g.9272A>C , LRG_522:g.9272A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.326+3923A>C	ENSP00000453965.2:n.326+3923A>C
ENST00000257555.11:c.326+3923A>C MANE Select	ENSP00000257555.5:n.326+3923A>C
ENST00000257555.10:c.326+3923A>C	ENSP00000257555.4:n.326+3923A>C
ENST00000400024.6:c.326+3923A>C	ENSP00000476181.1:n.326+3923A>C
ENST00000402929.5:n.461+3923A>C
ENST00000535955.5:n.42+4325A>C
ENST00000538626.2:n.190+4177A>C
ENST00000538646.5:c.326+3923A>C	ENSP00000443964.1:n.326+3923A>C
ENST00000540108.1:c.326+3923A>C	ENSP00000445445.1:n.326+3923A>C
ENST00000541395.5:c.326+3923A>C	ENSP00000443112.1:n.326+3923A>C
ENST00000541924.5:c.326+3923A>C	ENSP00000440361.1:n.326+3923A>C
ENST00000543427.5:c.326+3923A>C	ENSP00000439721.2:n.326+3923A>C
ENST00000544413.2:c.326+3923A>C	ENSP00000438804.1:n.326+3923A>C
ENST00000544574.5:c.72+4177A>C	ENSP00000438565.1:n.72+4177A>C
ENST00000560968.5:c.469+3923A>C
ENST00000615446.4:c.-258+4306A>C	ENSP00000483994.1:n.-258+4306A>C
ENST00000617366.4:c.326+3923A>C	ENSP00000481967.1:n.326+3923A>C
NM_000545.5:c.326+3923A>C , LRG_522t1:c.326+3923A>C	NP_000536.5:n.326+3923A>C
NM_000545.6:c.326+3923A>C	NP_000536.5:n.326+3923A>C
NM_001306179.1:c.326+3923A>C	NP_001293108.1:n.326+3923A>C
XM_005253931.2:c.326+3923A>C	XP_005253988.1:n.326+3923A>C
XM_024449168.1:c.326+3923A>C	XP_024304936.1:n.326+3923A>C
NM_000545.8:c.326+3923A>C MANE Select	NP_000536.6:n.326+3923A>C
NM_001306179.2:c.326+3923A>C	NP_001293108.2:n.326+3923A>C