Canonical Allele Identifier: CA10645503
Gene: HNF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 322928
ClinVar RCV Id: RCV000307247 RCV002464171
dbSNP Id: rs75361710
gnomAD v2: 17-36046571-A-G
gnomAD v3: 17-37686568-A-G
gnomAD v4: 17-37686568-A-G
MyVariant Identifiers: chr17:g.36046571A>G (hg19) chr17:g.37686568A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.37686568A>G , CM000679.2:g.37686568A>G GRCh38
NC_000017.10:g.36046571A>G , CM000679.1:g.36046571A>G GRCh37
NC_000017.9:g.33120684A>G NCBI36
NG_013019.2:g.63539T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617811.5:c.*804T>C MANE Select ENSP00000480291.1:n.*804T>C
ENST00000617811.4:c.*804T>C ENSP00000480291.1:n.*804T>C
NM_000458.3:c.*804T>C NP_000449.1:n.*804T>C
NM_001165923.3:c.*804T>C NP_001159395.1:n.*804T>C
NM_001304286.1:c.*712T>C NP_001291215.1:n.*712T>C
XM_011525160.1:c.*712T>C XP_011523462.1:n.*712T>C
XM_011525161.1:c.*804T>C XP_011523463.1:n.*804T>C
XM_011525164.1:c.*712T>C XP_011523466.1:n.*712T>C
XR_002958135.1:n.913A>G
NM_000458.4:c.*804T>C MANE Select NP_000449.1:n.*804T>C
NM_001165923.4:c.*804T>C NP_001159395.1:n.*804T>C
NM_001304286.2:c.*712T>C NP_001291215.1:n.*712T>C
Search 100 bp 5'
Search 100 bp 3'