Canonical Allele Identifier: CA6832142

Gene: HNF1A

Linked Data

• dbSNP Id: rs780280661
• ExAC: 12:121437336 G / T
• gnomAD v2: 12-121437336-G-T
• gnomAD v4: 12-120999533-G-T
• MyVariant Identifiers: chr12:g.121437336G>T (hg19) ; chr12:g.120999533G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120999533G>T , CM000674.2:g.120999533G>T	GRCh38
NC_000012.11:g.121437336G>T , CM000674.1:g.121437336G>T	GRCh37
NC_000012.10:g.119921719G>T	NCBI36
NG_011731.2:g.25788G>T , LRG_522:g.25788G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.*421G>T	ENSP00000453965.2:n.*421G>T
ENST00000257555.11:c.1674G>T MANE Select	ENSP00000257555.5:p.Pro558=
ENST00000257555.10:c.1674G>T	ENSP00000257555.4:p.Pro558=
ENST00000540108.1:c.*1114G>T	ENSP00000445445.1:n.*1114G>T
ENST00000541395.5:c.1767G>T	ENSP00000443112.1:p.Pro589=
ENST00000543427.5:c.1137G>T	ENSP00000439721.2:p.Pro379=
ENST00000544413.2:c.1695G>T	ENSP00000438804.1:p.Pro565=
ENST00000560968.5:c.1491G>T
ENST00000615446.4:c.462G>T	ENSP00000483994.1:p.Pro154=
ENST00000617366.4:c.*83G>T	ENSP00000481967.1:n.*83G>T
NM_000545.5:c.1674G>T , LRG_522t1:c.1674G>T	NP_000536.5:p.Pro558=
NM_000545.6:c.1674G>T	NP_000536.5:p.Pro558=
NM_001306179.1:c.1695G>T	NP_001293108.1:p.Pro565=
XM_005253931.2:c.1767G>T	XP_005253988.1:p.Pro589=
XM_024449168.1:c.1767G>T	XP_024304936.1:p.Pro589=
NM_000545.8:c.1674G>T MANE Select	NP_000536.6:p.Pro558=
NM_001306179.2:c.1695G>T	NP_001293108.2:p.Pro565=