Canonical Allele Identifier: CA402240220

Gene: KCTD1

Linked Data

• dbSNP Id: rs587776998
• gnomAD v2: 18-24081111-G-A
• gnomAD v4: 18-26501147-G-A
• COSMIC: COSM987275 ; COSM987276
• MyVariant Identifiers: chr18:g.24081111G>A (hg19) ; chr18:g.26501147G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000580059.7:c.1913C>T MANE Select	ENSP00000463041.2:p.Ala638Val
ENST00000317932.11:c.89C>T	ENSP00000314831.7:p.Ala30Val
ENST00000408011.7:c.89C>T	ENSP00000384367.3:p.Ala30Val
ENST00000417602.5:c.89C>T	ENSP00000408405.2:p.Ala30Val
ENST00000578973.1:c.89C>T	ENSP00000463608.1:p.Ala30Val
ENST00000579973.5:c.89C>T	ENSP00000464170.1:p.Ala30Val
ENST00000580059.5:c.89C>T	ENSP00000463041.1:p.Ala30Val
ENST00000580191.5:c.113C>T	ENSP00000464261.1:p.Ala38Val
ENST00000580638.5:c.89C>T	ENSP00000462470.1:p.Ala30Val
NM_001136205.2:c.89C>T	NP_001129677.1:p.Ala30Val
NM_001142730.2:c.1913C>T	NP_001136202.1:p.Ala638Val
NM_001258221.1:c.89C>T	NP_001245150.1:p.Ala30Val
NM_001258222.1:c.113C>T	NP_001245151.1:p.Ala38Val
NM_198991.3:c.89C>T	NP_945342.1:p.Ala30Val
NM_001258222.2:c.113C>T	NP_001245151.1:p.Ala38Val
NM_001351443.1:c.89C>T	NP_001338372.1:p.Ala30Val
XR_002958168.1:n.2261C>T
NM_001142730.3:c.1913C>T MANE Select	NP_001136202.1:p.Ala638Val
NM_001258222.3:c.113C>T	NP_001245151.1:p.Ala38Val
NM_001258221.2:c.89C>T	NP_001245150.1:p.Ala30Val
NM_198991.4:c.89C>T	NP_945342.1:p.Ala30Val