Canonical Allele Identifier: CA8518940

Gene: HNF1B

Linked Data

• dbSNP Id: rs776799692
• ExAC: 17:36091559 A / T
• gnomAD v2: 17-36091559-A-T
• gnomAD v3: 17-37731568-A-T
• gnomAD v4: 17-37731568-A-T
• MyVariant Identifiers: chr17:g.36091559A>T (hg19) ; chr17:g.37731568A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37731568A>T , CM000679.2:g.37731568A>T	GRCh38
NC_000017.10:g.36091559A>T , CM000679.1:g.36091559A>T	GRCh37
NC_000017.9:g.33165672A>T	NCBI36
NG_013019.2:g.18539T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617811.5:c.1045+27T>A MANE Select	ENSP00000480291.1:n.1045+27T>A
ENST00000613727.4:c.967+27T>A	ENSP00000477524.1:n.967+27T>A
ENST00000614313.4:c.1045+27T>A	ENSP00000482529.1:n.1045+27T>A
ENST00000617272.4:c.1045+27T>A	ENSP00000478682.1:n.1045+27T>A
ENST00000617811.4:c.1045+27T>A	ENSP00000480291.1:n.1045+27T>A
ENST00000618894.1:n.524T>A
ENST00000621123.4:c.967+27T>A	ENSP00000482711.1:n.967+27T>A
NM_000458.3:c.1045+27T>A	NP_000449.1:n.1045+27T>A
NM_001165923.3:c.967+27T>A	NP_001159395.1:n.967+27T>A
NM_001304286.1:c.967+27T>A	NP_001291215.1:n.967+27T>A
XM_011525160.1:c.1045+27T>A	XP_011523462.1:n.1045+27T>A
XM_011525161.1:c.1045+27T>A	XP_011523463.1:n.1045+27T>A
XM_011525162.1:c.1045+27T>A	XP_011523464.1:n.1045+27T>A
XM_011525163.1:c.1045+27T>A	XP_011523465.1:n.1045+27T>A
XM_011525164.1:c.967+27T>A	XP_011523466.1:n.967+27T>A
XM_011525162.2:c.1045+27T>A	XP_011523464.1:n.1045+27T>A
XM_011525163.2:c.1045+27T>A	XP_011523465.1:n.1045+27T>A
NM_000458.4:c.1045+27T>A MANE Select	NP_000449.1:n.1045+27T>A
NM_001165923.4:c.967+27T>A	NP_001159395.1:n.967+27T>A
NM_001304286.2:c.967+27T>A	NP_001291215.1:n.967+27T>A