Canonical Allele Identifier: CA398751759

Gene: HNF1B

Linked Data

• MyVariant Identifiers: chr17:g.36099629C>T (hg19) ; chr17:g.37739638C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37739638C>T , CM000679.2:g.37739638C>T	GRCh38
NC_000017.10:g.36099629C>T , CM000679.1:g.36099629C>T	GRCh37
NC_000017.9:g.33173742C>T	NCBI36
NG_013019.2:g.10469G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617811.5:c.346G>A MANE Select	ENSP00000480291.1:p.Glu116Lys
ENST00000613727.4:c.346G>A	ENSP00000477524.1:p.Glu116Lys
ENST00000614313.4:c.346G>A	ENSP00000482529.1:p.Glu116Lys
ENST00000617272.4:c.346G>A	ENSP00000478682.1:p.Glu116Lys
ENST00000617811.4:c.346G>A	ENSP00000480291.1:p.Glu116Lys
ENST00000620125.1:c.346G>A	ENSP00000481245.1:p.Glu116Lys
ENST00000621123.4:c.346G>A	ENSP00000482711.1:p.Glu116Lys
NM_000458.3:c.346G>A	NP_000449.1:p.Glu116Lys
NM_001165923.3:c.346G>A	NP_001159395.1:p.Glu116Lys
NM_001304286.1:c.346G>A	NP_001291215.1:p.Glu116Lys
XM_011525160.1:c.346G>A	XP_011523462.1:p.Glu116Lys
XM_011525161.1:c.346G>A	XP_011523463.1:p.Glu116Lys
XM_011525162.1:c.346G>A	XP_011523464.1:p.Glu116Lys
XM_011525163.1:c.346G>A	XP_011523465.1:p.Glu116Lys
XM_011525164.1:c.346G>A	XP_011523466.1:p.Glu116Lys
XM_011525162.2:c.346G>A	XP_011523464.1:p.Glu116Lys
XM_011525163.2:c.346G>A	XP_011523465.1:p.Glu116Lys
NM_000458.4:c.346G>A MANE Select	NP_000449.1:p.Glu116Lys
NM_001165923.4:c.346G>A	NP_001159395.1:p.Glu116Lys
NM_001304286.2:c.346G>A	NP_001291215.1:p.Glu116Lys