Canonical Allele Identifier: CA16044140
Gene: HNF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 224334
ClinVar RCV Id: RCV000416588
dbSNP Id: rs1057519371

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.37710578dup , CM000679.2:g.37710578dup GRCh38
NC_000017.10:g.36070586dup , CM000679.1:g.36070586dup GRCh37
NC_000017.9:g.33144699dup NCBI36
NG_013019.2:g.39530dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000617811.5:c.1132dup MANE Select ENSP00000480291.1:p.Gln378ProfsTer22
ENST00000613727.4:c.1054dup ENSP00000477524.1:p.Gln352ProfsTer22
ENST00000614313.4:c.1132dup ENSP00000482529.1:p.Gln378ProfsTer22
ENST00000617272.4:c.1132dup ENSP00000478682.1:p.Gln378ProfsTer22
ENST00000617811.4:c.1132dup ENSP00000480291.1:p.Gln378ProfsTer22
ENST00000621123.4:c.1054dup ENSP00000482711.1:p.Gln352ProfsTer22
NM_000458.3:c.1132dup NP_000449.1:p.Gln378ProfsTer22
NM_001165923.3:c.1054dup NP_001159395.1:p.Gln352ProfsTer22
NM_001304286.1:c.1054dup NP_001291215.1:p.Gln352ProfsTer22
XM_011525160.1:c.1132dup XP_011523462.1:p.Gln378ProfsTer22
XM_011525161.1:c.1132dup XP_011523463.1:p.Gln378ProfsTer22
XM_011525164.1:c.1054dup XP_011523466.1:p.Gln352ProfsTer22
NM_000458.4:c.1132dup MANE Select NP_000449.1:p.Gln378ProfsTer22
NM_001165923.4:c.1054dup NP_001159395.1:p.Gln352ProfsTer22
NM_001304286.2:c.1054dup NP_001291215.1:p.Gln352ProfsTer22