Canonical Allele Identifier: CA244532808

Gene: HNF1A

Linked Data

• dbSNP Id: rs375595183
• MyVariant Identifiers: chr12:g.121431895C>G (hg19) ; chr12:g.120994092C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120994092C>G , CM000674.2:g.120994092C>G	GRCh38
NC_000012.11:g.121431895C>G , CM000674.1:g.121431895C>G	GRCh37
NC_000012.10:g.119916278C>G	NCBI36
NG_011731.2:g.20347C>G , LRG_522:g.20347C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.714-72C>G	ENSP00000453965.2:n.714-72C>G
ENST00000257555.11:c.714-72C>G MANE Select	ENSP00000257555.5:n.714-72C>G
ENST00000257555.10:c.714-72C>G	ENSP00000257555.4:n.714-72C>G
ENST00000400024.6:c.714-72C>G	ENSP00000476181.1:n.714-72C>G
ENST00000402929.5:n.849-72C>G
ENST00000535955.5:n.43-3399C>G
ENST00000538626.2:n.191-3399C>G
ENST00000538646.5:c.527-72C>G	ENSP00000443964.1:n.527-72C>G
ENST00000540108.1:c.*154-72C>G	ENSP00000445445.1:n.*154-72C>G
ENST00000541395.5:c.714-72C>G	ENSP00000443112.1:n.714-72C>G
ENST00000541924.5:c.713+386C>G	ENSP00000440361.1:n.713+386C>G
ENST00000543427.5:c.633+466C>G	ENSP00000439721.2:n.633+466C>G
ENST00000544413.2:c.714-72C>G	ENSP00000438804.1:n.714-72C>G
ENST00000544574.5:c.73-2525C>G	ENSP00000438565.1:n.73-2525C>G
ENST00000560968.5:c.857-72C>G
ENST00000615446.4:c.-257-2170C>G	ENSP00000483994.1:n.-257-2170C>G
ENST00000617366.4:c.586+513C>G	ENSP00000481967.1:n.586+513C>G
NM_000545.5:c.714-72C>G , LRG_522t1:c.714-72C>G	NP_000536.5:n.714-72C>G
NM_000545.6:c.714-72C>G	NP_000536.5:n.714-72C>G
NM_001306179.1:c.714-72C>G	NP_001293108.1:n.714-72C>G
XM_005253931.2:c.714-72C>G	XP_005253988.1:n.714-72C>G
XM_024449168.1:c.714-72C>G	XP_024304936.1:n.714-72C>G
NM_000545.8:c.714-72C>G MANE Select	NP_000536.6:n.714-72C>G
NM_001306179.2:c.714-72C>G	NP_001293108.2:n.714-72C>G