Canonical Allele Identifier: CA214357
Gene: HNF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 36846
ClinVar RCV Id: RCV000030527 RCV002464085
dbSNP Id: rs193922487
MyVariant Identifiers: chr17:g.36104532C>T (hg19) chr17:g.37744541C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.37744541C>T , CM000679.2:g.37744541C>T GRCh38
NC_000017.10:g.36104532C>T , CM000679.1:g.36104532C>T GRCh37
NC_000017.9:g.33178645C>T NCBI36
NG_013019.2:g.5566G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000617811.5:c.344G>A MANE Select ENSP00000480291.1:p.Ser115Asn
ENST00000613727.4:c.344G>A ENSP00000477524.1:p.Ser115Asn
ENST00000614313.4:c.344G>A ENSP00000482529.1:p.Ser115Asn
ENST00000617272.4:c.344G>A ENSP00000478682.1:p.Ser115Asn
ENST00000617811.4:c.344G>A ENSP00000480291.1:p.Ser115Asn
ENST00000620125.1:c.344G>A ENSP00000481245.1:p.Ser115Asn
ENST00000621123.4:c.344G>A ENSP00000482711.1:p.Ser115Asn
NM_000458.3:c.344G>A NP_000449.1:p.Ser115Asn
NM_001165923.3:c.344G>A NP_001159395.1:p.Ser115Asn
NM_001304286.1:c.344G>A NP_001291215.1:p.Ser115Asn
XM_011525160.1:c.344G>A XP_011523462.1:p.Ser115Asn
XM_011525161.1:c.344G>A XP_011523463.1:p.Ser115Asn
XM_011525162.1:c.344G>A XP_011523464.1:p.Ser115Asn
XM_011525163.1:c.344G>A XP_011523465.1:p.Ser115Asn
XM_011525164.1:c.344G>A XP_011523466.1:p.Ser115Asn
XM_011525162.2:c.344G>A XP_011523464.1:p.Ser115Asn
XM_011525163.2:c.344G>A XP_011523465.1:p.Ser115Asn
NM_000458.4:c.344G>A MANE Select NP_000449.1:p.Ser115Asn
NM_001165923.4:c.344G>A NP_001159395.1:p.Ser115Asn
NM_001304286.2:c.344G>A NP_001291215.1:p.Ser115Asn
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