Canonical Allele Identifier: CA052108

Gene: KCND3

Linked Data

• ClinVar Variation Id: 192254
• ClinVar RCV Id: RCV000172843 ; RCV000619002 ; RCV000712060 ; RCV001370775 ; RCV002505242
• dbSNP Id: rs149344567
• ExAC: 1:112318869 C / T
• gnomAD v2: 1-112318869-C-T
• gnomAD v3: 1-111776247-C-T
• gnomAD v4: 1-111776247-C-T
• COSMIC: COSM4020660 ; COSM4020661
• MyVariant Identifiers: chr1:g.112318869C>T (hg19) ; chr1:g.111776247C>T (hg38)
• PubMed: PMID:21349352 ; PMID:22284586 ; PMID:22457051 ; PMID:22840528 ; PMID:23414114 ; PMID:26016905

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111776247C>T , CM000663.2:g.111776247C>T	GRCh38
NC_000001.10:g.112318869C>T , CM000663.1:g.112318869C>T	GRCh37
NC_000001.9:g.112120392C>T	NCBI36
NG_032011.2:g.217909G>A , LRG_445:g.217909G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302127.5:c.1798G>A MANE Select	ENSP00000306923.4:p.Gly600Arg
ENST00000302127.4:c.1741G>A	ENSP00000306923.3:p.Gly581Arg
ENST00000315987.6:c.1798G>A	ENSP00000319591.2:p.Gly600Arg
ENST00000369697.5:c.1741G>A	ENSP00000358711.1:p.Gly581Arg
NM_004980.4:c.1798G>A , LRG_445t1:c.1798G>A	NP_004971.2:p.Gly600Arg
NM_172198.2:c.1741G>A	NP_751948.1:p.Gly581Arg
XM_005270851.3:c.1798G>A	XP_005270908.1:p.Gly600Arg
XM_006710629.2:c.1798G>A	XP_006710692.1:p.Gly600Arg
XM_006710630.2:c.1741G>A	XP_006710693.1:p.Gly581Arg
XM_006710631.2:c.*17G>A	XP_006710694.1:n.*17G>A
XM_005270851.4:c.1798G>A	XP_005270908.1:p.Gly600Arg
XM_006710629.4:c.1798G>A	XP_006710692.1:p.Gly600Arg
XM_006710630.3:c.1741G>A	XP_006710693.1:p.Gly581Arg
XM_006710631.3:c.*17G>A	XP_006710694.1:n.*17G>A
XM_017001244.2:c.1798G>A	XP_016856733.1:p.Gly600Arg
NM_001378969.1:c.1798G>A MANE Select	NP_001365898.1:p.Gly600Arg
NM_001378970.1:c.1741G>A	NP_001365899.1:p.Gly581Arg
NM_004980.5:c.1798G>A	NP_004971.2:p.Gly600Arg
NM_172198.3:c.1741G>A	NP_751948.1:p.Gly581Arg