Canonical Allele Identifier: CA8518824

Gene: HNF1B

Linked Data

• ClinVar Variation Id: 322945
• ClinVar RCV Id: RCV000284726 ; RCV002056574 ; RCV002504095
• dbSNP Id: rs187556368
• ExAC: 17:36061048 C / T
• gnomAD v2: 17-36061048-C-T
• gnomAD v3: 17-37701043-C-T
• gnomAD v4: 17-37701043-C-T
• MyVariant Identifiers: chr17:g.36061048C>T (hg19) ; chr17:g.37701043C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37701043C>T , CM000679.2:g.37701043C>T	GRCh38
NC_000017.10:g.36061048C>T , CM000679.1:g.36061048C>T	GRCh37
NC_000017.9:g.33135161C>T	NCBI36
NG_013019.2:g.49064G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000617811.5:c.1474G>A MANE Select	ENSP00000480291.1:p.Gly492Ser
ENST00000613727.4:c.1261+3874G>A	ENSP00000477524.1:n.1261+3874G>A
ENST00000614313.4:c.1474G>A	ENSP00000482529.1:p.Gly492Ser
ENST00000617272.4:c.*197G>A	ENSP00000478682.1:n.*197G>A
ENST00000617811.4:c.1474G>A	ENSP00000480291.1:p.Gly492Ser
ENST00000621123.4:c.1396G>A	ENSP00000482711.1:p.Gly466Ser
NM_000458.3:c.1474G>A	NP_000449.1:p.Gly492Ser
NM_001165923.3:c.1396G>A	NP_001159395.1:p.Gly466Ser
NM_001304286.1:c.1261+3874G>A	NP_001291215.1:n.1261+3874G>A
XM_011525160.1:c.1474G>A	XP_011523462.1:p.Gly492Ser
XM_011525161.1:c.1340-1849G>A	XP_011523463.1:n.1340-1849G>A
XM_011525164.1:c.1396G>A	XP_011523466.1:p.Gly466Ser
NM_000458.4:c.1474G>A MANE Select	NP_000449.1:p.Gly492Ser
NM_001165923.4:c.1396G>A	NP_001159395.1:p.Gly466Ser
NM_001304286.2:c.1261+3874G>A	NP_001291215.1:n.1261+3874G>A