Canonical Allele Identifier: CA214360

Gene: HNF1B

Linked Data

• ClinVar Variation Id: 36849
• ClinVar RCV Id: RCV000030530 ; RCV002477029 ; RCV002513268
• dbSNP Id: rs193922489
• MyVariant Identifiers: chr17:g.36099498del (hg19) ; chr17:g.37739507del (hg38)
• PubMed: PMID:11085914

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37739507del , CM000679.2:g.37739507del	GRCh38
NC_000017.10:g.36099498del , CM000679.1:g.36099498del	GRCh37
NC_000017.9:g.33173611del	NCBI36
NG_013019.2:g.10600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617811.5:c.477del MANE Select	ENSP00000480291.1:p.Met160Ter
ENST00000613727.4:c.477del	ENSP00000477524.1:p.Met160Ter
ENST00000614313.4:c.477del	ENSP00000482529.1:p.Met160Ter
ENST00000617272.4:c.477del	ENSP00000478682.1:p.Met160Ter
ENST00000617811.4:c.477del	ENSP00000480291.1:p.Met160Ter
ENST00000620125.1:c.477del	ENSP00000481245.1:p.Met160Ter
ENST00000621123.4:c.477del	ENSP00000482711.1:p.Met160Ter
NM_000458.3:c.477del	NP_000449.1:p.Met160Ter
NM_001165923.3:c.477del	NP_001159395.1:p.Met160Ter
NM_001304286.1:c.477del	NP_001291215.1:p.Met160Ter
XM_011525160.1:c.477del	XP_011523462.1:p.Met160Ter
XM_011525161.1:c.477del	XP_011523463.1:p.Met160Ter
XM_011525162.1:c.477del	XP_011523464.1:p.Met160Ter
XM_011525163.1:c.477del	XP_011523465.1:p.Met160Ter
XM_011525164.1:c.477del	XP_011523466.1:p.Met160Ter
XM_011525162.2:c.477del	XP_011523464.1:p.Met160Ter
XM_011525163.2:c.477del	XP_011523465.1:p.Met160Ter
NM_000458.4:c.477del MANE Select	NP_000449.1:p.Met160Ter
NM_001165923.4:c.477del	NP_001159395.1:p.Met160Ter
NM_001304286.2:c.477del	NP_001291215.1:p.Met160Ter