Canonical Allele Identifier: CA398750135
Gene: HNF1B HGNC NCBI

Linked Data

dbSNP Id: rs8068014

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.37687325A>T , CM000679.2:g.37687325A>T GRCh38
NC_000017.10:g.36047328A>T , CM000679.1:g.36047328A>T GRCh37
NC_000017.9:g.33121441A>T NCBI36
NG_013019.2:g.62782T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617811.5:c.*47T>A MANE Select ENSP00000480291.1:n.*47T>A
ENST00000613727.4:c.1329T>A ENSP00000477524.1:p.Phe443Leu
ENST00000614313.4:c.1602T>A ENSP00000482529.1:p.Phe534Leu
ENST00000617272.4:c.*325T>A ENSP00000478682.1:n.*325T>A
ENST00000617811.4:c.*47T>A ENSP00000480291.1:n.*47T>A
ENST00000621123.4:c.*47T>A ENSP00000482711.1:n.*47T>A
NM_000458.3:c.*47T>A NP_000449.1:n.*47T>A
NM_001165923.3:c.*47T>A NP_001159395.1:n.*47T>A
NM_001304286.1:c.1329T>A NP_001291215.1:p.Phe443Leu
XM_011525160.1:c.1602T>A XP_011523462.1:p.Phe534Leu
XM_011525161.1:c.*47T>A XP_011523463.1:n.*47T>A
XM_011525164.1:c.1524T>A XP_011523466.1:p.Phe508Leu
XR_002958135.1:n.1591+79A>T
NM_000458.4:c.*47T>A MANE Select NP_000449.1:n.*47T>A
NM_001165923.4:c.*47T>A NP_001159395.1:n.*47T>A
NM_001304286.2:c.1329T>A NP_001291215.1:p.Phe443Leu