Canonical Allele Identifier: CA398746541

Gene: HNF1B

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37731691C>T , CM000679.2:g.37731691C>T	GRCh38
NC_000017.10:g.36091682C>T , CM000679.1:g.36091682C>T	GRCh37
NC_000017.9:g.33165795C>T	NCBI36
NG_013019.2:g.18416G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617811.5:c.949G>A MANE Select	ENSP00000480291.1:p.Ala317Thr
ENST00000613727.4:c.871G>A	ENSP00000477524.1:p.Ala291Thr
ENST00000614313.4:c.949G>A	ENSP00000482529.1:p.Ala317Thr
ENST00000617272.4:c.949G>A	ENSP00000478682.1:p.Ala317Thr
ENST00000617811.4:c.949G>A	ENSP00000480291.1:p.Ala317Thr
ENST00000618894.1:n.401G>A
ENST00000620125.1:c.852G>A	ENSP00000481245.1:p.Thr284=
ENST00000621123.4:c.871G>A	ENSP00000482711.1:p.Ala291Thr
NM_000458.3:c.949G>A	NP_000449.1:p.Ala317Thr
NM_001165923.3:c.871G>A	NP_001159395.1:p.Ala291Thr
NM_001304286.1:c.871G>A	NP_001291215.1:p.Ala291Thr
XM_011525160.1:c.949G>A	XP_011523462.1:p.Ala317Thr
XM_011525161.1:c.949G>A	XP_011523463.1:p.Ala317Thr
XM_011525162.1:c.949G>A	XP_011523464.1:p.Ala317Thr
XM_011525163.1:c.949G>A	XP_011523465.1:p.Ala317Thr
XM_011525164.1:c.871G>A	XP_011523466.1:p.Ala291Thr
XM_011525162.2:c.949G>A	XP_011523464.1:p.Ala317Thr
XM_011525163.2:c.949G>A	XP_011523465.1:p.Ala317Thr
NM_000458.4:c.949G>A MANE Select	NP_000449.1:p.Ala317Thr
NM_001165923.4:c.871G>A	NP_001159395.1:p.Ala291Thr
NM_001304286.2:c.871G>A	NP_001291215.1:p.Ala291Thr