Canonical Allele Identifier: CA214353
Gene: HNF1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.37687414G= , CM000679.2:g.37687414G= GRCh38
NG_013019.2:g.62693C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000617811.5:c.1654-22C= MANE Select ENSP00000480291.1:n.1654-22C=
ENST00000613727.4:c.1262-22C= ENSP00000477524.1:n.1262-22C=
ENST00000614313.4:c.1535-22C= ENSP00000482529.1:n.1535-22C=
ENST00000617272.4:c.*258-22C= ENSP00000478682.1:n.*258-22C=
ENST00000617811.4:c.1654-22C= ENSP00000480291.1:n.1654-22C=
ENST00000621123.4:c.1576-22C= ENSP00000482711.1:n.1576-22C=
NM_000458.3:c.1654-22C= NP_000449.1:n.1654-22C=
NM_001165923.3:c.1576-22C= NP_001159395.1:n.1576-22C=
NM_001304286.1:c.1262-22C= NP_001291215.1:n.1262-22C=
XM_011525160.1:c.1535-22C= XP_011523462.1:n.1535-22C=
XM_011525161.1:c.1459-22C= XP_011523463.1:n.1459-22C=
XM_011525164.1:c.1457-22C= XP_011523466.1:n.1457-22C=
XR_002958135.1:n.1591+168G=
NM_000458.4:c.1654-22C= MANE Select NP_000449.1:n.1654-22C=
NM_001165923.4:c.1576-22C= NP_001159395.1:n.1576-22C=
NM_001304286.2:c.1262-22C= NP_001291215.1:n.1262-22C=