Canonical Allele Identifier: CA386970323

Gene: HNF1A

Linked Data

• dbSNP Id: rs1877181214
• MyVariant Identifiers: chr12:g.121435437G>A (hg19) ; chr12:g.120997634G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997634G>A , CM000674.2:g.120997634G>A	GRCh38
NC_000012.11:g.121435437G>A , CM000674.1:g.121435437G>A	GRCh37
NC_000012.10:g.119919820G>A	NCBI36
NG_011731.2:g.23889G>A , LRG_522:g.23889G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.*217G>A	ENSP00000453965.2:n.*217G>A
ENST00000257555.11:c.1470G>A MANE Select	ENSP00000257555.5:p.Met490Ile
ENST00000257555.10:c.1470G>A	ENSP00000257555.4:p.Met490Ile
ENST00000400024.6:c.1470G>A	ENSP00000476181.1:p.Met490Ile
ENST00000402929.5:n.2336G>A
ENST00000535955.5:n.186G>A
ENST00000538626.2:n.334G>A
ENST00000538646.5:c.*446G>A	ENSP00000443964.1:n.*446G>A
ENST00000540108.1:c.*910G>A	ENSP00000445445.1:n.*910G>A
ENST00000541395.5:c.1470G>A	ENSP00000443112.1:p.Met490Ile
ENST00000541924.5:c.*484G>A	ENSP00000440361.1:n.*484G>A
ENST00000543255.1:n.514G>A
ENST00000543427.5:c.933G>A	ENSP00000439721.2:p.Met311Ile
ENST00000544413.2:c.1470G>A	ENSP00000438804.1:p.Met490Ile
ENST00000544574.5:c.*233G>A	ENSP00000438565.1:n.*233G>A
ENST00000560968.5:c.1287G>A
ENST00000615446.4:c.258G>A	ENSP00000483994.1:p.Met86Ile
ENST00000617366.4:c.587G>A	ENSP00000481967.1:p.Arg196Lys
NM_000545.5:c.1470G>A , LRG_522t1:c.1470G>A	NP_000536.5:p.Met490Ile
NM_000545.6:c.1470G>A	NP_000536.5:p.Met490Ile
NM_001306179.1:c.1470G>A	NP_001293108.1:p.Met490Ile
XM_005253931.2:c.1470G>A	XP_005253988.1:p.Met490Ile
XM_024449168.1:c.1470G>A	XP_024304936.1:p.Met490Ile
NM_000545.8:c.1470G>A MANE Select	NP_000536.6:p.Met490Ile
NM_001306179.2:c.1470G>A	NP_001293108.2:p.Met490Ile