Canonical Allele Identifier: CA122601

Gene: HNF1B

Linked Data

• ClinVar Variation Id: 12640
• ClinVar RCV Id: RCV000013475 ; RCV002496343 ; RCV001328308 ; RCV002472930
• dbSNP Id: rs121918672
• MyVariant Identifiers: chr17:g.36091805G>A (hg19) ; chr17:g.37731814G>A (hg38)
• PubMed: PMID:12161522

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37731814G>A , CM000679.2:g.37731814G>A	GRCh38
NC_000017.10:g.36091805G>A , CM000679.1:g.36091805G>A	GRCh37
NC_000017.9:g.33165918G>A	NCBI36
NG_013019.2:g.18293C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617811.5:c.826C>T MANE Select	ENSP00000480291.1:p.Arg276Ter
ENST00000613727.4:c.748C>T	ENSP00000477524.1:p.Arg250Ter
ENST00000614313.4:c.826C>T	ENSP00000482529.1:p.Arg276Ter
ENST00000617272.4:c.826C>T	ENSP00000478682.1:p.Arg276Ter
ENST00000617811.4:c.826C>T	ENSP00000480291.1:p.Arg276Ter
ENST00000618894.1:n.278C>T
ENST00000620125.1:c.729C>T	ENSP00000481245.1:p.Ser243=
ENST00000621123.4:c.748C>T	ENSP00000482711.1:p.Arg250Ter
NM_000458.3:c.826C>T	NP_000449.1:p.Arg276Ter
NM_001165923.3:c.748C>T	NP_001159395.1:p.Arg250Ter
NM_001304286.1:c.748C>T	NP_001291215.1:p.Arg250Ter
XM_011525160.1:c.826C>T	XP_011523462.1:p.Arg276Ter
XM_011525161.1:c.826C>T	XP_011523463.1:p.Arg276Ter
XM_011525162.1:c.826C>T	XP_011523464.1:p.Arg276Ter
XM_011525163.1:c.826C>T	XP_011523465.1:p.Arg276Ter
XM_011525164.1:c.748C>T	XP_011523466.1:p.Arg250Ter
XM_011525162.2:c.826C>T	XP_011523464.1:p.Arg276Ter
XM_011525163.2:c.826C>T	XP_011523465.1:p.Arg276Ter
NM_000458.4:c.826C>T MANE Select	NP_000449.1:p.Arg276Ter
NM_001165923.4:c.748C>T	NP_001159395.1:p.Arg250Ter
NM_001304286.2:c.748C>T	NP_001291215.1:p.Arg250Ter