Canonical Allele Identifier: CA983457831

Gene: HNF1B

Linked Data

• dbSNP Id: rs2032563998
• gnomAD v3: 17-37701311-C-A
• gnomAD v4: 17-37701311-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37701311C>A , CM000679.2:g.37701311C>A	GRCh38
NC_000017.10:g.36061316C>A , CM000679.1:g.36061316C>A	GRCh37
NC_000017.9:g.33135429C>A	NCBI36
NG_013019.2:g.48796G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000617811.5:c.1340-134G>T MANE Select	ENSP00000480291.1:n.1340-134G>T
ENST00000613727.4:c.1261+3606G>T	ENSP00000477524.1:n.1261+3606G>T
ENST00000614313.4:c.1340-134G>T	ENSP00000482529.1:n.1340-134G>T
ENST00000617272.4:c.*63-134G>T	ENSP00000478682.1:n.*63-134G>T
ENST00000617811.4:c.1340-134G>T	ENSP00000480291.1:n.1340-134G>T
ENST00000621123.4:c.1262-134G>T	ENSP00000482711.1:n.1262-134G>T
NM_000458.3:c.1340-134G>T	NP_000449.1:n.1340-134G>T
NM_001165923.3:c.1262-134G>T	NP_001159395.1:n.1262-134G>T
NM_001304286.1:c.1261+3606G>T	NP_001291215.1:n.1261+3606G>T
XM_011525160.1:c.1340-134G>T	XP_011523462.1:n.1340-134G>T
XM_011525161.1:c.1340-2117G>T	XP_011523463.1:n.1340-2117G>T
XM_011525164.1:c.1262-134G>T	XP_011523466.1:n.1262-134G>T
NM_000458.4:c.1340-134G>T MANE Select	NP_000449.1:n.1340-134G>T
NM_001165923.4:c.1262-134G>T	NP_001159395.1:n.1262-134G>T
NM_001304286.2:c.1261+3606G>T	NP_001291215.1:n.1261+3606G>T