Canonical Allele Identifier: CA2067679085

Gene: HNF1A

Linked Data

• dbSNP Id: rs1876961308
• gnomAD v3: 12-120994095-T-C
• gnomAD v4: 12-120994095-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120994095T>C , CM000674.2:g.120994095T>C	GRCh38
NC_000012.11:g.121431898T>C , CM000674.1:g.121431898T>C	GRCh37
NC_000012.10:g.119916281T>C	NCBI36
NG_011731.2:g.20350T>C , LRG_522:g.20350T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.714-69T>C	ENSP00000453965.2:n.714-69T>C
ENST00000257555.11:c.714-69T>C MANE Select	ENSP00000257555.5:n.714-69T>C
ENST00000257555.10:c.714-69T>C	ENSP00000257555.4:n.714-69T>C
ENST00000400024.6:c.714-69T>C	ENSP00000476181.1:n.714-69T>C
ENST00000402929.5:n.849-69T>C
ENST00000535955.5:n.43-3396T>C
ENST00000538626.2:n.191-3396T>C
ENST00000538646.5:c.527-69T>C	ENSP00000443964.1:n.527-69T>C
ENST00000540108.1:c.*154-69T>C	ENSP00000445445.1:n.*154-69T>C
ENST00000541395.5:c.714-69T>C	ENSP00000443112.1:n.714-69T>C
ENST00000541924.5:c.713+389T>C	ENSP00000440361.1:n.713+389T>C
ENST00000543427.5:c.633+469T>C	ENSP00000439721.2:n.633+469T>C
ENST00000544413.2:c.714-69T>C	ENSP00000438804.1:n.714-69T>C
ENST00000544574.5:c.73-2522T>C	ENSP00000438565.1:n.73-2522T>C
ENST00000560968.5:c.857-69T>C
ENST00000615446.4:c.-257-2167T>C	ENSP00000483994.1:n.-257-2167T>C
ENST00000617366.4:c.586+516T>C	ENSP00000481967.1:n.586+516T>C
NM_000545.5:c.714-69T>C , LRG_522t1:c.714-69T>C	NP_000536.5:n.714-69T>C
NM_000545.6:c.714-69T>C	NP_000536.5:n.714-69T>C
NM_001306179.1:c.714-69T>C	NP_001293108.1:n.714-69T>C
XM_005253931.2:c.714-69T>C	XP_005253988.1:n.714-69T>C
XM_024449168.1:c.714-69T>C	XP_024304936.1:n.714-69T>C
NM_000545.8:c.714-69T>C MANE Select	NP_000536.6:n.714-69T>C
NM_001306179.2:c.714-69T>C	NP_001293108.2:n.714-69T>C