Canonical Allele Identifier: CA1007457

Gene: KCND3

Linked Data

• ClinVar Variation Id: 432538
• ClinVar RCV Id: RCV000498826 ; RCV000505597 ; RCV001857017 ; RCV002481586 ; RCV003302733
• dbSNP Id: rs199637120
• ExAC: 1:112323313 G / A
• gnomAD v2: 1-112323313-G-A
• gnomAD v3: 1-111780691-G-A
• gnomAD v4: 1-111780691-G-A
• COSMIC: COSM5036330 ; COSM5036331
• MyVariant Identifiers: chr1:g.112323313G>A (hg19) ; chr1:g.111780691G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111780691G>A , CM000663.2:g.111780691G>A	GRCh38
NC_000001.10:g.112323313G>A , CM000663.1:g.112323313G>A	GRCh37
NC_000001.9:g.112124836G>A	NCBI36
NG_032011.2:g.213465C>T , LRG_445:g.213465C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703640.1:n.2061C>T
ENST00000302127.5:c.1370C>T MANE Select	ENSP00000306923.4:p.Thr457Met
ENST00000302127.4:c.1370C>T	ENSP00000306923.3:p.Thr457Met
ENST00000315987.6:c.1370C>T	ENSP00000319591.2:p.Thr457Met
ENST00000369697.5:c.1370C>T	ENSP00000358711.1:p.Thr457Met
NM_004980.4:c.1370C>T , LRG_445t1:c.1370C>T	NP_004971.2:p.Thr457Met
NM_172198.2:c.1370C>T	NP_751948.1:p.Thr457Met
XM_005270851.3:c.1370C>T	XP_005270908.1:p.Thr457Met
XM_006710629.2:c.1370C>T	XP_006710692.1:p.Thr457Met
XM_006710630.2:c.1370C>T	XP_006710693.1:p.Thr457Met
XM_006710631.2:c.1370C>T	XP_006710694.1:p.Thr457Met
XM_005270851.4:c.1370C>T	XP_005270908.1:p.Thr457Met
XM_006710629.4:c.1370C>T	XP_006710692.1:p.Thr457Met
XM_006710630.3:c.1370C>T	XP_006710693.1:p.Thr457Met
XM_006710631.3:c.1370C>T	XP_006710694.1:p.Thr457Met
XM_017001244.2:c.1370C>T	XP_016856733.1:p.Thr457Met
NM_001378969.1:c.1370C>T MANE Select	NP_001365898.1:p.Thr457Met
NM_001378970.1:c.1370C>T	NP_001365899.1:p.Thr457Met
NM_004980.5:c.1370C>T	NP_004971.2:p.Thr457Met
NM_172198.3:c.1370C>T	NP_751948.1:p.Thr457Met