Canonical Allele Identifier: CA10639526
Gene: HNF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 322933
ClinVar RCV Id: RCV000261500 RCV002464176
dbSNP Id: rs144234352
gnomAD v2: 17-36046692-C-T
gnomAD v3: 17-37686689-C-T
gnomAD v4: 17-37686689-C-T
MyVariant Identifiers: chr17:g.36046692C>T (hg19) chr17:g.37686689C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.37686689C>T , CM000679.2:g.37686689C>T GRCh38
NC_000017.10:g.36046692C>T , CM000679.1:g.36046692C>T GRCh37
NC_000017.9:g.33120805C>T NCBI36
NG_013019.2:g.63418G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617811.5:c.*683G>A MANE Select ENSP00000480291.1:n.*683G>A
ENST00000617811.4:c.*683G>A ENSP00000480291.1:n.*683G>A
NM_000458.3:c.*683G>A NP_000449.1:n.*683G>A
NM_001165923.3:c.*683G>A NP_001159395.1:n.*683G>A
NM_001304286.1:c.*591G>A NP_001291215.1:n.*591G>A
XM_011525160.1:c.*591G>A XP_011523462.1:n.*591G>A
XM_011525161.1:c.*683G>A XP_011523463.1:n.*683G>A
XM_011525164.1:c.*591G>A XP_011523466.1:n.*591G>A
XR_002958135.1:n.1034C>T
NM_000458.4:c.*683G>A MANE Select NP_000449.1:n.*683G>A
NM_001165923.4:c.*683G>A NP_001159395.1:n.*683G>A
NM_001304286.2:c.*591G>A NP_001291215.1:n.*591G>A
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