Canonical Allele Identifier: CA386973342

Gene: HNF1A

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120999607G>C , CM000674.2:g.120999607G>C	GRCh38
NC_000012.11:g.121437410G>C , CM000674.1:g.121437410G>C	GRCh37
NC_000012.10:g.119921793G>C	NCBI36
NG_011731.2:g.25862G>C , LRG_522:g.25862G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.*495G>C	ENSP00000453965.2:n.*495G>C
ENST00000257555.11:c.1748G>C MANE Select	ENSP00000257555.5:p.Arg583Pro
ENST00000257555.10:c.1748G>C	ENSP00000257555.4:p.Arg583Pro
ENST00000540108.1:c.*1188G>C	ENSP00000445445.1:n.*1188G>C
ENST00000541395.5:c.1841G>C	ENSP00000443112.1:p.Arg614Pro
ENST00000543427.5:c.1211G>C	ENSP00000439721.2:p.Arg404Pro
ENST00000544413.2:c.1769G>C	ENSP00000438804.1:p.Arg590Pro
ENST00000560968.5:c.1565G>C
ENST00000615446.4:c.536G>C	ENSP00000483994.1:p.Arg179Pro
ENST00000617366.4:c.*157G>C	ENSP00000481967.1:n.*157G>C
NM_000545.5:c.1748G>C , LRG_522t1:c.1748G>C	NP_000536.5:p.Arg583Pro
NM_000545.6:c.1748G>C	NP_000536.5:p.Arg583Pro
NM_001306179.1:c.1769G>C	NP_001293108.1:p.Arg590Pro
XM_005253931.2:c.1841G>C	XP_005253988.1:p.Arg614Pro
XM_024449168.1:c.1841G>C	XP_024304936.1:p.Arg614Pro
NM_000545.8:c.1748G>C MANE Select	NP_000536.6:p.Arg583Pro
NM_001306179.2:c.1769G>C	NP_001293108.2:p.Arg590Pro