Canonical Allele Identifier: CA8519014

Gene: HNF1B

Linked Data

• ClinVar Variation Id: 1801843
• ClinVar RCV Id: RCV002464053 ; RCV003103168
• dbSNP Id: rs529294719
• ExAC: 17:36093604 C / T
• gnomAD v2: 17-36093604-C-T
• gnomAD v3: 17-37733611-C-T
• gnomAD v4: 17-37733611-C-T
• MyVariant Identifiers: chr17:g.36093604C>T (hg19) ; chr17:g.37733611C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000617811.5:c.755G>A MANE Select	ENSP00000480291.1:p.Arg252Gln
ENST00000613727.4:c.677G>A	ENSP00000477524.1:p.Arg226Gln
ENST00000614313.4:c.755G>A	ENSP00000482529.1:p.Arg252Gln
ENST00000617272.4:c.755G>A	ENSP00000478682.1:p.Arg252Gln
ENST00000617811.4:c.755G>A	ENSP00000480291.1:p.Arg252Gln
ENST00000618894.1:n.207G>A
ENST00000620125.1:c.663G>A	ENSP00000481245.1:p.Ser221=
ENST00000621123.4:c.677G>A	ENSP00000482711.1:p.Arg226Gln
NM_000458.3:c.755G>A	NP_000449.1:p.Arg252Gln
NM_001165923.3:c.677G>A	NP_001159395.1:p.Arg226Gln
NM_001304286.1:c.677G>A	NP_001291215.1:p.Arg226Gln
XM_011525160.1:c.755G>A	XP_011523462.1:p.Arg252Gln
XM_011525161.1:c.755G>A	XP_011523463.1:p.Arg252Gln
XM_011525162.1:c.755G>A	XP_011523464.1:p.Arg252Gln
XM_011525163.1:c.755G>A	XP_011523465.1:p.Arg252Gln
XM_011525164.1:c.677G>A	XP_011523466.1:p.Arg226Gln
XM_011525162.2:c.755G>A	XP_011523464.1:p.Arg252Gln
XM_011525163.2:c.755G>A	XP_011523465.1:p.Arg252Gln
NM_000458.4:c.755G>A MANE Select	NP_000449.1:p.Arg252Gln
NM_001165923.4:c.677G>A	NP_001159395.1:p.Arg226Gln
NM_001304286.2:c.677G>A	NP_001291215.1:p.Arg226Gln