Canonical Allele Identifier: CA2841378925

Gene: HNF1B

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37701249A>G , CM000679.2:g.37701249A>G	GRCh38
NC_000017.10:g.36061254A>G , CM000679.1:g.36061254A>G	GRCh37
NC_000017.9:g.33135367A>G	NCBI36
NG_013019.2:g.48858T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617811.5:c.1340-72T>C MANE Select	ENSP00000480291.1:n.1340-72T>C
ENST00000613727.4:c.1261+3668T>C	ENSP00000477524.1:n.1261+3668T>C
ENST00000614313.4:c.1340-72T>C	ENSP00000482529.1:n.1340-72T>C
ENST00000617272.4:c.*63-72T>C	ENSP00000478682.1:n.*63-72T>C
ENST00000617811.4:c.1340-72T>C	ENSP00000480291.1:n.1340-72T>C
ENST00000621123.4:c.1262-72T>C	ENSP00000482711.1:n.1262-72T>C
NM_000458.3:c.1340-72T>C	NP_000449.1:n.1340-72T>C
NM_001165923.3:c.1262-72T>C	NP_001159395.1:n.1262-72T>C
NM_001304286.1:c.1261+3668T>C	NP_001291215.1:n.1261+3668T>C
XM_011525160.1:c.1340-72T>C	XP_011523462.1:n.1340-72T>C
XM_011525161.1:c.1340-2055T>C	XP_011523463.1:n.1340-2055T>C
XM_011525164.1:c.1262-72T>C	XP_011523466.1:n.1262-72T>C
NM_000458.4:c.1340-72T>C MANE Select	NP_000449.1:n.1340-72T>C
NM_001165923.4:c.1262-72T>C	NP_001159395.1:n.1262-72T>C
NM_001304286.2:c.1261+3668T>C	NP_001291215.1:n.1261+3668T>C