Canonical Allele Identifier: CA1007474

Gene: KCND3

Linked Data

• ClinVar Variation Id: 519484
• ClinVar RCV Id: RCV000619969 ; RCV000992219 ; RCV001226501 ; RCV003338690
• dbSNP Id: rs771703569
• ExAC: 1:112323391 C / T
• gnomAD v2: 1-112323391-C-T
• gnomAD v3: 1-111780769-C-T
• gnomAD v4: 1-111780769-C-T
• MyVariant Identifiers: chr1:g.112323391C>T (hg19) ; chr1:g.111780769C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111780769C>T , CM000663.2:g.111780769C>T	GRCh38
NC_000001.10:g.112323391C>T , CM000663.1:g.112323391C>T	GRCh37
NC_000001.9:g.112124914C>T	NCBI36
NG_032011.2:g.213387G>A , LRG_445:g.213387G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703640.1:n.1983G>A
ENST00000302127.5:c.1292G>A MANE Select	ENSP00000306923.4:p.Arg431His
ENST00000302127.4:c.1292G>A	ENSP00000306923.3:p.Arg431His
ENST00000315987.6:c.1292G>A	ENSP00000319591.2:p.Arg431His
ENST00000369697.5:c.1292G>A	ENSP00000358711.1:p.Arg431His
NM_004980.4:c.1292G>A , LRG_445t1:c.1292G>A	NP_004971.2:p.Arg431His
NM_172198.2:c.1292G>A	NP_751948.1:p.Arg431His
XM_005270851.3:c.1292G>A	XP_005270908.1:p.Arg431His
XM_006710629.2:c.1292G>A	XP_006710692.1:p.Arg431His
XM_006710630.2:c.1292G>A	XP_006710693.1:p.Arg431His
XM_006710631.2:c.1292G>A	XP_006710694.1:p.Arg431His
XM_005270851.4:c.1292G>A	XP_005270908.1:p.Arg431His
XM_006710629.4:c.1292G>A	XP_006710692.1:p.Arg431His
XM_006710630.3:c.1292G>A	XP_006710693.1:p.Arg431His
XM_006710631.3:c.1292G>A	XP_006710694.1:p.Arg431His
XM_017001244.2:c.1292G>A	XP_016856733.1:p.Arg431His
NM_001378969.1:c.1292G>A MANE Select	NP_001365898.1:p.Arg431His
NM_001378970.1:c.1292G>A	NP_001365899.1:p.Arg431His
NM_004980.5:c.1292G>A	NP_004971.2:p.Arg431His
NM_172198.3:c.1292G>A	NP_751948.1:p.Arg431His