Canonical Allele Identifier: CA952553368

Gene: HNF1A

Linked Data

• dbSNP Id: rs1876316237
• gnomAD v3: 12-120982696-C-G
• gnomAD v4: 12-120982696-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120982696C>G , CM000674.2:g.120982696C>G	GRCh38
NC_000012.11:g.121420499C>G , CM000674.1:g.121420499C>G	GRCh37
NC_000012.10:g.119904882C>G	NCBI36
NG_011731.2:g.8951C>G , LRG_522:g.8951C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.326+3602C>G	ENSP00000453965.2:n.326+3602C>G
ENST00000257555.11:c.326+3602C>G MANE Select	ENSP00000257555.5:n.326+3602C>G
ENST00000257555.10:c.326+3602C>G	ENSP00000257555.4:n.326+3602C>G
ENST00000400024.6:c.326+3602C>G	ENSP00000476181.1:n.326+3602C>G
ENST00000402929.5:n.461+3602C>G
ENST00000535955.5:n.42+4004C>G
ENST00000538626.2:n.190+3856C>G
ENST00000538646.5:c.326+3602C>G	ENSP00000443964.1:n.326+3602C>G
ENST00000540108.1:c.326+3602C>G	ENSP00000445445.1:n.326+3602C>G
ENST00000541395.5:c.326+3602C>G	ENSP00000443112.1:n.326+3602C>G
ENST00000541924.5:c.326+3602C>G	ENSP00000440361.1:n.326+3602C>G
ENST00000543427.5:c.326+3602C>G	ENSP00000439721.2:n.326+3602C>G
ENST00000544413.2:c.326+3602C>G	ENSP00000438804.1:n.326+3602C>G
ENST00000544574.5:c.72+3856C>G	ENSP00000438565.1:n.72+3856C>G
ENST00000560968.5:c.469+3602C>G
ENST00000615446.4:c.-258+3985C>G	ENSP00000483994.1:n.-258+3985C>G
ENST00000617366.4:c.326+3602C>G	ENSP00000481967.1:n.326+3602C>G
NM_000545.5:c.326+3602C>G , LRG_522t1:c.326+3602C>G	NP_000536.5:n.326+3602C>G
NM_000545.6:c.326+3602C>G	NP_000536.5:n.326+3602C>G
NM_001306179.1:c.326+3602C>G	NP_001293108.1:n.326+3602C>G
XM_005253931.2:c.326+3602C>G	XP_005253988.1:n.326+3602C>G
XM_024449168.1:c.326+3602C>G	XP_024304936.1:n.326+3602C>G
NM_000545.8:c.326+3602C>G MANE Select	NP_000536.6:n.326+3602C>G
NM_001306179.2:c.326+3602C>G	NP_001293108.2:n.326+3602C>G