Canonical Allele Identifier: CA398751132

Gene: HNF1B

Linked Data

• ClinVar Variation Id: 635677
• ClinVar RCV Id: RCV000787184
• dbSNP Id: rs925595786
• gnomAD v2: 17-36099458-C-G
• gnomAD v4: 17-37739467-C-G
• MyVariant Identifiers: chr17:g.36099458C>G (hg19) ; chr17:g.37739467C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37739467C>G , CM000679.2:g.37739467C>G	GRCh38
NC_000017.10:g.36099458C>G , CM000679.1:g.36099458C>G	GRCh37
NC_000017.9:g.33173571C>G	NCBI36
NG_013019.2:g.10640G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000617811.5:c.517G>C MANE Select	ENSP00000480291.1:p.Val173Leu
ENST00000613727.4:c.517G>C	ENSP00000477524.1:p.Val173Leu
ENST00000614313.4:c.517G>C	ENSP00000482529.1:p.Val173Leu
ENST00000617272.4:c.517G>C	ENSP00000478682.1:p.Val173Leu
ENST00000617811.4:c.517G>C	ENSP00000480291.1:p.Val173Leu
ENST00000620125.1:c.517G>C	ENSP00000481245.1:p.Val173Leu
ENST00000621123.4:c.517G>C	ENSP00000482711.1:p.Val173Leu
NM_000458.3:c.517G>C	NP_000449.1:p.Val173Leu
NM_001165923.3:c.517G>C	NP_001159395.1:p.Val173Leu
NM_001304286.1:c.517G>C	NP_001291215.1:p.Val173Leu
XM_011525160.1:c.517G>C	XP_011523462.1:p.Val173Leu
XM_011525161.1:c.517G>C	XP_011523463.1:p.Val173Leu
XM_011525162.1:c.517G>C	XP_011523464.1:p.Val173Leu
XM_011525163.1:c.517G>C	XP_011523465.1:p.Val173Leu
XM_011525164.1:c.517G>C	XP_011523466.1:p.Val173Leu
XM_011525162.2:c.517G>C	XP_011523464.1:p.Val173Leu
XM_011525163.2:c.517G>C	XP_011523465.1:p.Val173Leu
NM_000458.4:c.517G>C MANE Select	NP_000449.1:p.Val173Leu
NM_001165923.4:c.517G>C	NP_001159395.1:p.Val173Leu
NM_001304286.2:c.517G>C	NP_001291215.1:p.Val173Leu