Canonical Allele Identifier: CA143987

Gene: KCTD1

Linked Data

• ClinVar Variation Id: 55881
• ClinVar RCV Id: RCV000049292
• dbSNP Id: rs587776998
• MyVariant Identifiers: chr18:g.24081111G>T (hg19) ; chr18:g.26501147G>T (hg38)
• PubMed: PMID:8042668 ; PMID:23541344

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26501147G>T , CM000680.2:g.26501147G>T	GRCh38
NC_000018.9:g.24081111G>T , CM000680.1:g.24081111G>T	GRCh37
NC_000018.8:g.22335109G>T	NCBI36
NG_054919.1:g.161366C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580059.7:c.1913C>A MANE Select	ENSP00000463041.2:p.Ala638Glu
ENST00000317932.11:c.89C>A	ENSP00000314831.7:p.Ala30Glu
ENST00000408011.7:c.89C>A	ENSP00000384367.3:p.Ala30Glu
ENST00000417602.5:c.89C>A	ENSP00000408405.2:p.Ala30Glu
ENST00000578973.1:c.89C>A	ENSP00000463608.1:p.Ala30Glu
ENST00000579973.5:c.89C>A	ENSP00000464170.1:p.Ala30Glu
ENST00000580059.5:c.89C>A	ENSP00000463041.1:p.Ala30Glu
ENST00000580191.5:c.113C>A	ENSP00000464261.1:p.Ala38Glu
ENST00000580638.5:c.89C>A	ENSP00000462470.1:p.Ala30Glu
NM_001136205.2:c.89C>A	NP_001129677.1:p.Ala30Glu
NM_001142730.2:c.1913C>A	NP_001136202.1:p.Ala638Glu
NM_001258221.1:c.89C>A	NP_001245150.1:p.Ala30Glu
NM_001258222.1:c.113C>A	NP_001245151.1:p.Ala38Glu
NM_198991.3:c.89C>A	NP_945342.1:p.Ala30Glu
NM_001258222.2:c.113C>A	NP_001245151.1:p.Ala38Glu
NM_001351443.1:c.89C>A	NP_001338372.1:p.Ala30Glu
XR_002958168.1:n.2261C>A
NM_001142730.3:c.1913C>A MANE Select	NP_001136202.1:p.Ala638Glu
NM_001258222.3:c.113C>A	NP_001245151.1:p.Ala38Glu
NM_001258221.2:c.89C>A	NP_001245150.1:p.Ala30Glu
NM_198991.4:c.89C>A	NP_945342.1:p.Ala30Glu