Canonical Allele Identifier: CA398750158

Gene: HNF1B

Linked Data

• ClinVar Variation Id: 438661
• ClinVar RCV Id: RCV000505626 ; RCV002464229
• dbSNP Id: rs1555818071
• gnomAD v4: 17-37687335-C-T
• MyVariant Identifiers: chr17:g.36047338C>T (hg19) ; chr17:g.37687335C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37687335C>T , CM000679.2:g.37687335C>T	GRCh38
NC_000017.10:g.36047338C>T , CM000679.1:g.36047338C>T	GRCh37
NC_000017.9:g.33121451C>T	NCBI36
NG_013019.2:g.62772G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617811.5:c.*37G>A MANE Select	ENSP00000480291.1:n.*37G>A
ENST00000613727.4:c.1319G>A	ENSP00000477524.1:p.Gly440Glu
ENST00000614313.4:c.1592G>A	ENSP00000482529.1:p.Gly531Glu
ENST00000617272.4:c.*315G>A	ENSP00000478682.1:n.*315G>A
ENST00000617811.4:c.*37G>A	ENSP00000480291.1:n.*37G>A
ENST00000621123.4:c.*37G>A	ENSP00000482711.1:n.*37G>A
NM_000458.3:c.*37G>A	NP_000449.1:n.*37G>A
NM_001165923.3:c.*37G>A	NP_001159395.1:n.*37G>A
NM_001304286.1:c.1319G>A	NP_001291215.1:p.Gly440Glu
XM_011525160.1:c.1592G>A	XP_011523462.1:p.Gly531Glu
XM_011525161.1:c.*37G>A	XP_011523463.1:n.*37G>A
XM_011525164.1:c.1514G>A	XP_011523466.1:p.Gly505Glu
XR_002958135.1:n.1591+89C>T
NM_000458.4:c.*37G>A MANE Select	NP_000449.1:n.*37G>A
NM_001165923.4:c.*37G>A	NP_001159395.1:n.*37G>A
NM_001304286.2:c.1319G>A	NP_001291215.1:p.Gly440Glu