Canonical Allele Identifier: CA3223295344
Community Standard Title: NM_000458.4(HNF1B):c.703C= (p.Arg235=)
Gene: HNF1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.37733663G= , CM000679.2:g.37733663G= GRCh38
NC_000017.10:g.36093656G= , CM000679.1:g.36093656G= GRCh37
NC_000017.9:g.33167769G= NCBI36
NG_013019.2:g.16444C=

Transcript Alleles

HGVS Amino-acid Change
NM_000458.4:c.703C= MANE Select NP_000449.1:p.Arg235=
ENST00000617811.5:c.703C= MANE Select ENSP00000480291.1:p.Arg235=
NM_000458.3:c.703C= NP_000449.1:p.Arg235=
NM_001165923.3:c.625C= NP_001159395.1:p.Arg209=
NM_001165923.4:c.625C= NP_001159395.1:p.Arg209=
NM_001304286.1:c.625C= NP_001291215.1:p.Arg209=
NM_001304286.2:c.625C= NP_001291215.1:p.Arg209=
ENST00000613727.4:c.625C= ENSP00000477524.1:p.Arg209=
ENST00000614313.4:c.703C= ENSP00000482529.1:p.Arg235=
ENST00000617272.4:c.703C= ENSP00000478682.1:p.Arg235=
ENST00000617811.4:c.703C= ENSP00000480291.1:p.Arg235=
ENST00000618894.1:n.155C=
ENST00000620125.1:c.625C= ENSP00000481245.1:p.Arg209=
ENST00000621123.4:c.625C= ENSP00000482711.1:p.Arg209=
XM_011525160.1:c.703C= XP_011523462.1:p.Arg235=
XM_011525161.1:c.703C= XP_011523463.1:p.Arg235=
XM_011525162.1:c.703C= XP_011523464.1:p.Arg235=
XM_011525162.2:c.703C= XP_011523464.1:p.Arg235=
XM_011525163.1:c.703C= XP_011523465.1:p.Arg235=
XM_011525163.2:c.703C= XP_011523465.1:p.Arg235=
XM_011525164.1:c.625C= XP_011523466.1:p.Arg209=