Canonical Allele Identifier: CA214359
Gene: HNF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 36848
ClinVar RCV Id: RCV000030529
dbSNP Id: rs193922488

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.37739640C>A , CM000679.2:g.37739640C>A GRCh38
NC_000017.10:g.36099631C>A , CM000679.1:g.36099631C>A GRCh37
NC_000017.9:g.33173744C>A NCBI36
NG_013019.2:g.10467G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000617811.5:c.345-1G>T MANE Select ENSP00000480291.1:p.=
ENST00000613727.4:c.345-1G>T ENSP00000477524.1:p.=
ENST00000614313.4:c.345-1G>T ENSP00000482529.1:p.=
ENST00000617272.4:c.345-1G>T ENSP00000478682.1:p.=
ENST00000617811.4:c.345-1G>T ENSP00000480291.1:p.=
ENST00000620125.1:c.345-1G>T ENSP00000481245.1:p.=
ENST00000621123.4:c.345-1G>T ENSP00000482711.1:p.=
NM_000458.3:c.345-1G>T NP_000449.1:p.=
NM_001165923.3:c.345-1G>T NP_001159395.1:p.=
NM_001304286.1:c.345-1G>T NP_001291215.1:p.=
XM_011525160.1:c.345-1G>T XP_011523462.1:p.=
XM_011525161.1:c.345-1G>T XP_011523463.1:p.=
XM_011525162.1:c.345-1G>T XP_011523464.1:p.=
XM_011525163.1:c.345-1G>T XP_011523465.1:p.=
XM_011525164.1:c.345-1G>T XP_011523466.1:p.=
XM_011525162.2:c.345-1G>T XP_011523464.1:p.=
XM_011525163.2:c.345-1G>T XP_011523465.1:p.=
NM_000458.4:c.345-1G>T MANE Select NP_000449.1:p.=
NM_001165923.4:c.345-1G>T NP_001159395.1:p.=
NM_001304286.2:c.345-1G>T NP_001291215.1:p.=