Canonical Allele Identifier: CA2258514750

Gene: HNF1B

Linked Data

• dbSNP Id: rs2032598735

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37702297G>A , CM000679.2:g.37702297G>A	GRCh38
NC_000017.10:g.36062302G>A , CM000679.1:g.36062302G>A	GRCh37
NC_000017.9:g.33136415G>A	NCBI36
NG_013019.2:g.47810C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000617811.5:c.1340-1120C>T MANE Select	ENSP00000480291.1:n.1340-1120C>T
ENST00000613727.4:c.1261+2620C>T	ENSP00000477524.1:n.1261+2620C>T
ENST00000614313.4:c.1340-1120C>T	ENSP00000482529.1:n.1340-1120C>T
ENST00000617272.4:c.*63-1120C>T	ENSP00000478682.1:n.*63-1120C>T
ENST00000617811.4:c.1340-1120C>T	ENSP00000480291.1:n.1340-1120C>T
ENST00000621123.4:c.1262-1120C>T	ENSP00000482711.1:n.1262-1120C>T
NM_000458.3:c.1340-1120C>T	NP_000449.1:n.1340-1120C>T
NM_001165923.3:c.1262-1120C>T	NP_001159395.1:n.1262-1120C>T
NM_001304286.1:c.1261+2620C>T	NP_001291215.1:n.1261+2620C>T
XM_011525160.1:c.1340-1120C>T	XP_011523462.1:n.1340-1120C>T
XM_011525161.1:c.1339+2620C>T	XP_011523463.1:n.1339+2620C>T
XM_011525164.1:c.1262-1120C>T	XP_011523466.1:n.1262-1120C>T
NM_000458.4:c.1340-1120C>T MANE Select	NP_000449.1:n.1340-1120C>T
NM_001165923.4:c.1262-1120C>T	NP_001159395.1:n.1262-1120C>T
NM_001304286.2:c.1261+2620C>T	NP_001291215.1:n.1261+2620C>T