Canonical Allele Identifier: CA8519185

Gene: HNF1B

Linked Data

• ClinVar Variation Id: 3044135
• ClinVar RCV Id: RCV003939427
• dbSNP Id: rs769034021
• ExAC: 17:36104914 T / G
• gnomAD v2: 17-36104914-T-G
• gnomAD v3: 17-37744923-T-G
• gnomAD v4: 17-37744923-T-G
• MyVariant Identifiers: chr17:g.36104914T>G (hg19) ; chr17:g.37744923T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37744923T>G , CM000679.2:g.37744923T>G	GRCh38
NC_000017.10:g.36104914T>G , CM000679.1:g.36104914T>G	GRCh37
NC_000017.9:g.33179027T>G	NCBI36
NG_013019.2:g.5184A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617811.5:c.-39A>C MANE Select	ENSP00000480291.1:n.-39A>C
ENST00000613727.4:c.-39A>C	ENSP00000477524.1:n.-39A>C
ENST00000614313.4:c.-39A>C	ENSP00000482529.1:n.-39A>C
ENST00000617272.4:c.-39A>C	ENSP00000478682.1:n.-39A>C
ENST00000617811.4:c.-39A>C	ENSP00000480291.1:n.-39A>C
ENST00000620125.1:c.-39A>C	ENSP00000481245.1:n.-39A>C
ENST00000621123.4:c.-39A>C	ENSP00000482711.1:n.-39A>C
NM_000458.3:c.-39A>C	NP_000449.1:n.-39A>C
NM_001165923.3:c.-39A>C	NP_001159395.1:n.-39A>C
NM_001304286.1:c.-39A>C	NP_001291215.1:n.-39A>C
XM_011525160.1:c.-39A>C	XP_011523462.1:n.-39A>C
XM_011525161.1:c.-39A>C	XP_011523463.1:n.-39A>C
XM_011525162.1:c.-39A>C	XP_011523464.1:n.-39A>C
XM_011525163.1:c.-39A>C	XP_011523465.1:n.-39A>C
XM_011525164.1:c.-39A>C	XP_011523466.1:n.-39A>C
XM_011525162.2:c.-39A>C	XP_011523464.1:n.-39A>C
XM_011525163.2:c.-39A>C	XP_011523465.1:n.-39A>C
NM_000458.4:c.-39A>C MANE Select	NP_000449.1:n.-39A>C
NM_001165923.4:c.-39A>C	NP_001159395.1:n.-39A>C
NM_001304286.2:c.-39A>C	NP_001291215.1:n.-39A>C