Canonical Allele Identifier: CA200132

Gene: KCND3

Linked Data

• ClinVar Variation Id: 192255
• ClinVar RCV Id: RCV000172844 ; RCV000444260 ; RCV000460804
• dbSNP Id: rs786205867
• MyVariant Identifiers: chr1:g.112329661C>T (hg19) ; chr1:g.111787039C>T (hg38)
• PubMed: PMID:22457051

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111787039C>T , CM000663.2:g.111787039C>T	GRCh38
NC_000001.10:g.112329661C>T , CM000663.1:g.112329661C>T	GRCh37
NC_000001.9:g.112131184C>T	NCBI36
NG_032011.2:g.207117G>A , LRG_445:g.207117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302127.5:c.1174G>A MANE Select	ENSP00000306923.4:p.Val392Ile
ENST00000302127.4:c.1174G>A	ENSP00000306923.3:p.Val392Ile
ENST00000315987.6:c.1174G>A	ENSP00000319591.2:p.Val392Ile
ENST00000369697.5:c.1174G>A	ENSP00000358711.1:p.Val392Ile
NM_004980.4:c.1174G>A , LRG_445t1:c.1174G>A	NP_004971.2:p.Val392Ile
NM_172198.2:c.1174G>A	NP_751948.1:p.Val392Ile
XM_005270851.3:c.1174G>A	XP_005270908.1:p.Val392Ile
XM_006710629.2:c.1174G>A	XP_006710692.1:p.Val392Ile
XM_006710630.2:c.1174G>A	XP_006710693.1:p.Val392Ile
XM_006710631.2:c.1174G>A	XP_006710694.1:p.Val392Ile
XM_005270851.4:c.1174G>A	XP_005270908.1:p.Val392Ile
XM_006710629.4:c.1174G>A	XP_006710692.1:p.Val392Ile
XM_006710630.3:c.1174G>A	XP_006710693.1:p.Val392Ile
XM_006710631.3:c.1174G>A	XP_006710694.1:p.Val392Ile
XM_017001244.2:c.1174G>A	XP_016856733.1:p.Val392Ile
NM_001378969.1:c.1174G>A MANE Select	NP_001365898.1:p.Val392Ile
NM_001378970.1:c.1174G>A	NP_001365899.1:p.Val392Ile
NM_004980.5:c.1174G>A	NP_004971.2:p.Val392Ile
NM_172198.3:c.1174G>A	NP_751948.1:p.Val392Ile