Canonical Allele Identifier: CA214345
Gene: HNF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 36838
dbSNP Id: rs141166864

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.37731583A>G , CM000679.2:g.37731583A>G GRCh38
NC_000017.10:g.36091574A>G , CM000679.1:g.36091574A>G GRCh37
NC_000017.9:g.33165687A>G NCBI36
NG_013019.2:g.18524T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000617811.5:c.1045+12T>C MANE Select ENSP00000480291.1:n.1045+12T>C
ENST00000613727.4:c.967+12T>C ENSP00000477524.1:n.967+12T>C
ENST00000614313.4:c.1045+12T>C ENSP00000482529.1:n.1045+12T>C
ENST00000617272.4:c.1045+12T>C ENSP00000478682.1:n.1045+12T>C
ENST00000617811.4:c.1045+12T>C ENSP00000480291.1:n.1045+12T>C
ENST00000618894.1:n.509T>C
ENST00000621123.4:c.967+12T>C ENSP00000482711.1:n.967+12T>C
NM_000458.3:c.1045+12T>C NP_000449.1:n.1045+12T>C
NM_001165923.3:c.967+12T>C NP_001159395.1:n.967+12T>C
NM_001304286.1:c.967+12T>C NP_001291215.1:n.967+12T>C
XM_011525160.1:c.1045+12T>C XP_011523462.1:n.1045+12T>C
XM_011525161.1:c.1045+12T>C XP_011523463.1:n.1045+12T>C
XM_011525162.1:c.1045+12T>C XP_011523464.1:n.1045+12T>C
XM_011525163.1:c.1045+12T>C XP_011523465.1:n.1045+12T>C
XM_011525164.1:c.967+12T>C XP_011523466.1:n.967+12T>C
XM_011525162.2:c.1045+12T>C XP_011523464.1:n.1045+12T>C
XM_011525163.2:c.1045+12T>C XP_011523465.1:n.1045+12T>C
NM_000458.4:c.1045+12T>C MANE Select NP_000449.1:n.1045+12T>C
NM_001165923.4:c.967+12T>C NP_001159395.1:n.967+12T>C
NM_001304286.2:c.967+12T>C NP_001291215.1:n.967+12T>C