Canonical Allele Identifier: CA386973187

Gene: HNF1A

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120999579A>C , CM000674.2:g.120999579A>C	GRCh38
NC_000012.11:g.121437382A>C , CM000674.1:g.121437382A>C	GRCh37
NC_000012.10:g.119921765A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.*467A>C	ENSP00000453965.2:n.*467A>C
ENST00000257555.11:c.1720A>C MANE Select	ENSP00000257555.5:p.Ser574Arg
ENST00000257555.10:c.1720A>C	ENSP00000257555.4:p.Ser574Arg
ENST00000540108.1:c.*1160A>C	ENSP00000445445.1:n.*1160A>C
ENST00000541395.5:c.1813A>C	ENSP00000443112.1:p.Ser605Arg
ENST00000543427.5:c.1183A>C	ENSP00000439721.2:p.Ser395Arg
ENST00000544413.2:c.1741A>C	ENSP00000438804.1:p.Ser581Arg
ENST00000560968.5:c.1537A>C
ENST00000615446.4:c.508A>C	ENSP00000483994.1:p.Ser170Arg
ENST00000617366.4:c.*129A>C	ENSP00000481967.1:n.*129A>C
XM_005253931.2:c.1813A>C	XP_005253988.1:p.Ser605Arg
XM_024449168.1:c.1813A>C	XP_024304936.1:p.Ser605Arg
NM_000545.8:c.1720A>C MANE Select	NP_000536.6:p.Ser574Arg
NM_001306179.2:c.1741A>C	NP_001293108.2:p.Ser581Arg