Canonical Allele Identifier: CA8518897
Gene: HNF1B HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.37710601C>T
GRCh37 chr17:g.36070609C>T
Revel Score:
ENST00000225893 0.547
ENST00000427275 0.547
ENST00000544593 0.547
ENST00000539087 0.547
gnomAD v2:
17:36070609 C / T
gnomAD v3:
17:37710601 C / T
gnomAD v4:
chr17-37710601-C-T
Joint Max Group AF 0.00193734 (AFR)
Genomes Max Group AF 0.00128086 (AFR)
Exomes Max Group AF 0.00251295 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.37710601C>T , CM000679.2:g.37710601C>T GRCh38
NC_000017.10:g.36070609C>T , CM000679.1:g.36070609C>T GRCh37
NC_000017.9:g.33144722C>T NCBI36
NG_013019.2:g.39506G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617811.5:c.1108G>A MANE Select ENSP00000480291.1:p.Gly370Ser
ENST00000613727.4:c.1030G>A ENSP00000477524.1:p.Gly344Ser
ENST00000614313.4:c.1108G>A ENSP00000482529.1:p.Gly370Ser
ENST00000617272.4:c.1108G>A ENSP00000478682.1:p.Gly370Ser
ENST00000617811.4:c.1108G>A ENSP00000480291.1:p.Gly370Ser
ENST00000621123.4:c.1030G>A ENSP00000482711.1:p.Gly344Ser
NM_000458.3:c.1108G>A NP_000449.1:p.Gly370Ser
NM_001165923.3:c.1030G>A NP_001159395.1:p.Gly344Ser
NM_001304286.1:c.1030G>A NP_001291215.1:p.Gly344Ser
XM_011525160.1:c.1108G>A XP_011523462.1:p.Gly370Ser
XM_011525161.1:c.1108G>A XP_011523463.1:p.Gly370Ser
XM_011525164.1:c.1030G>A XP_011523466.1:p.Gly344Ser
NM_000458.4:c.1108G>A MANE Select NP_000449.1:p.Gly370Ser
NM_001165923.4:c.1030G>A NP_001159395.1:p.Gly344Ser
NM_001304286.2:c.1030G>A NP_001291215.1:p.Gly344Ser
Search 100 bp 5'
Search 100 bp 3'