Canonical Allele Identifier: CA2637445708

Gene: HNF1B

Linked Data

• gnomAD v4: 17-37701312-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37701312A>T , CM000679.2:g.37701312A>T	GRCh38
NC_000017.10:g.36061317A>T , CM000679.1:g.36061317A>T	GRCh37
NC_000017.9:g.33135430A>T	NCBI36
NG_013019.2:g.48795T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000617811.5:c.1340-135T>A MANE Select	ENSP00000480291.1:n.1340-135T>A
ENST00000613727.4:c.1261+3605T>A	ENSP00000477524.1:n.1261+3605T>A
ENST00000614313.4:c.1340-135T>A	ENSP00000482529.1:n.1340-135T>A
ENST00000617272.4:c.*63-135T>A	ENSP00000478682.1:n.*63-135T>A
ENST00000617811.4:c.1340-135T>A	ENSP00000480291.1:n.1340-135T>A
ENST00000621123.4:c.1262-135T>A	ENSP00000482711.1:n.1262-135T>A
NM_000458.3:c.1340-135T>A	NP_000449.1:n.1340-135T>A
NM_001165923.3:c.1262-135T>A	NP_001159395.1:n.1262-135T>A
NM_001304286.1:c.1261+3605T>A	NP_001291215.1:n.1261+3605T>A
XM_011525160.1:c.1340-135T>A	XP_011523462.1:n.1340-135T>A
XM_011525161.1:c.1340-2118T>A	XP_011523463.1:n.1340-2118T>A
XM_011525164.1:c.1262-135T>A	XP_011523466.1:n.1262-135T>A
NM_000458.4:c.1340-135T>A MANE Select	NP_000449.1:n.1340-135T>A
NM_001165923.4:c.1262-135T>A	NP_001159395.1:n.1262-135T>A
NM_001304286.2:c.1261+3605T>A	NP_001291215.1:n.1261+3605T>A