Canonical Allele Identifier: CA3223306526
Community Standard Title: NM_000458.4(HNF1B):c.755G= (p.Arg252=)
Gene: HNF1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.37733611C= , CM000679.2:g.37733611C= GRCh38
NC_000017.10:g.36093604C= , CM000679.1:g.36093604C= GRCh37
NC_000017.9:g.33167717C= NCBI36
NG_013019.2:g.16496G=

Transcript Alleles

HGVS Amino-acid Change
NM_000458.4:c.755G= MANE Select NP_000449.1:p.Arg252=
ENST00000617811.5:c.755G= MANE Select ENSP00000480291.1:p.Arg252=
NM_000458.3:c.755G= NP_000449.1:p.Arg252=
NM_001165923.3:c.677G= NP_001159395.1:p.Arg226=
NM_001165923.4:c.677G= NP_001159395.1:p.Arg226=
NM_001304286.1:c.677G= NP_001291215.1:p.Arg226=
NM_001304286.2:c.677G= NP_001291215.1:p.Arg226=
ENST00000613727.4:c.677G= ENSP00000477524.1:p.Arg226=
ENST00000614313.4:c.755G= ENSP00000482529.1:p.Arg252=
ENST00000617272.4:c.755G= ENSP00000478682.1:p.Arg252=
ENST00000617811.4:c.755G= ENSP00000480291.1:p.Arg252=
ENST00000618894.1:n.207G=
ENST00000620125.1:c.663G= ENSP00000481245.1:p.Ser221=
ENST00000621123.4:c.677G= ENSP00000482711.1:p.Arg226=
XM_011525160.1:c.755G= XP_011523462.1:p.Arg252=
XM_011525161.1:c.755G= XP_011523463.1:p.Arg252=
XM_011525162.1:c.755G= XP_011523464.1:p.Arg252=
XM_011525162.2:c.755G= XP_011523464.1:p.Arg252=
XM_011525163.1:c.755G= XP_011523465.1:p.Arg252=
XM_011525163.2:c.755G= XP_011523465.1:p.Arg252=
XM_011525164.1:c.677G= XP_011523466.1:p.Arg226=