Canonical Allele Identifier: CA199778

Gene: KCTD17

Linked Data

• ClinVar Variation Id: 191372
• ClinVar RCV Id: RCV000171554 ; RCV001092006
• dbSNP Id: rs786205860
• gnomAD v3: 22-37057420-G-A
• gnomAD v4: 22-37057420-G-A
• MyVariant Identifiers: chr22:g.37453460G>A (hg19) ; chr22:g.37057420G>A (hg38)
• PubMed: PMID:25983243

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37057420G>A , CM000684.2:g.37057420G>A	GRCh38
NC_000022.10:g.37453460G>A , CM000684.1:g.37453460G>A	GRCh37
NC_000022.9:g.35783406G>A	NCBI36
NG_052003.1:g.10685G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000402077.8:c.413G>A	ENSP00000384391.4:p.Arg138His
ENST00000403888.8:c.413G>A MANE Select	ENSP00000385096.4:p.Arg138His
ENST00000610767.5:c.413G>A	ENSP00000480699.2:p.Arg138His
ENST00000402077.7:c.434G>A	ENSP00000384391.3:p.Arg145His
ENST00000403888.7:c.434G>A	ENSP00000385096.3:p.Arg145His
ENST00000421900.5:c.352G>A
ENST00000456470.1:c.298G>A
ENST00000462640.1:n.23G>A
ENST00000478231.5:n.259G>A
ENST00000483389.5:n.269G>A
ENST00000610767.4:c.434G>A	ENSP00000480699.1:p.Arg145His
NM_001282684.1:c.434G>A	NP_001269613.1:p.Arg145His
NM_001282685.1:c.434G>A	NP_001269614.1:p.Arg145His
NM_001282686.1:c.434G>A	NP_001269615.1:p.Arg145His
NM_024681.3:c.434G>A	NP_078957.2:p.Arg145His
XM_005261741.2:c.434G>A	XP_005261798.2:p.Arg145His
XM_005261742.2:c.434G>A	XP_005261799.2:p.Arg145His
XM_005261743.2:c.434G>A	XP_005261800.2:p.Arg145His
XM_005261744.2:c.434G>A	XP_005261801.1:p.Arg145His
XM_011530374.1:c.434G>A	XP_011528676.1:p.Arg145His
XM_011530375.1:c.434G>A	XP_011528677.1:p.Arg145His
XM_011530376.1:c.434G>A	XP_011528678.1:p.Arg145His
XM_011530377.1:c.434G>A	XP_011528679.1:p.Arg145His
XR_937917.1:n.449G>A
XM_005261741.3:c.434G>A	XP_005261798.2:p.Arg145His
XM_005261742.3:c.434G>A	XP_005261799.2:p.Arg145His
XM_005261743.3:c.434G>A	XP_005261800.2:p.Arg145His
XM_011530374.2:c.434G>A	XP_011528676.1:p.Arg145His
XM_011530377.2:c.434G>A	XP_011528679.1:p.Arg145His
XR_001755296.1:n.449G>A
XR_937917.2:n.449G>A
NM_001282684.2:c.413G>A MANE Select	NP_001269613.2:p.Arg138His
NM_001282685.2:c.413G>A	NP_001269614.2:p.Arg138His
NM_001282686.2:c.413G>A	NP_001269615.2:p.Arg138His
NM_024681.4:c.413G>A	NP_078957.3:p.Arg138His