Canonical Allele Identifier: CA2258514323

Gene: HNF1B

Linked Data

• dbSNP Id: rs932928177
• gnomAD v4: 17-37701297-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37701297G>C , CM000679.2:g.37701297G>C	GRCh38
NC_000017.10:g.36061302G>C , CM000679.1:g.36061302G>C	GRCh37
NC_000017.9:g.33135415G>C	NCBI36
NG_013019.2:g.48810C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000617811.5:c.1340-120C>G MANE Select	ENSP00000480291.1:n.1340-120C>G
ENST00000613727.4:c.1261+3620C>G	ENSP00000477524.1:n.1261+3620C>G
ENST00000614313.4:c.1340-120C>G	ENSP00000482529.1:n.1340-120C>G
ENST00000617272.4:c.*63-120C>G	ENSP00000478682.1:n.*63-120C>G
ENST00000617811.4:c.1340-120C>G	ENSP00000480291.1:n.1340-120C>G
ENST00000621123.4:c.1262-120C>G	ENSP00000482711.1:n.1262-120C>G
NM_000458.3:c.1340-120C>G	NP_000449.1:n.1340-120C>G
NM_001165923.3:c.1262-120C>G	NP_001159395.1:n.1262-120C>G
NM_001304286.1:c.1261+3620C>G	NP_001291215.1:n.1261+3620C>G
XM_011525160.1:c.1340-120C>G	XP_011523462.1:n.1340-120C>G
XM_011525161.1:c.1340-2103C>G	XP_011523463.1:n.1340-2103C>G
XM_011525164.1:c.1262-120C>G	XP_011523466.1:n.1262-120C>G
NM_000458.4:c.1340-120C>G MANE Select	NP_000449.1:n.1340-120C>G
NM_001165923.4:c.1262-120C>G	NP_001159395.1:n.1262-120C>G
NM_001304286.2:c.1261+3620C>G	NP_001291215.1:n.1261+3620C>G