Canonical Allele Identifier: CA144862

Gene: KCND3

Linked Data

• ClinVar Variation Id: 66064
• ClinVar RCV Id: RCV000056301 ; RCV001849175
• dbSNP Id: rs397515478
• MyVariant Identifiers: chr1:g.112329666C>T (hg19) ; chr1:g.111787044C>T (hg38)
• PubMed: PMID:23280838

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111787044C>T , CM000663.2:g.111787044C>T	GRCh38
NC_000001.10:g.112329666C>T , CM000663.1:g.112329666C>T	GRCh37
NC_000001.9:g.112131189C>T	NCBI36
NG_032011.2:g.207112G>A , LRG_445:g.207112G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302127.5:c.1169G>A MANE Select	ENSP00000306923.4:p.Ser390Asn
ENST00000302127.4:c.1169G>A	ENSP00000306923.3:p.Ser390Asn
ENST00000315987.6:c.1169G>A	ENSP00000319591.2:p.Ser390Asn
ENST00000369697.5:c.1169G>A	ENSP00000358711.1:p.Ser390Asn
NM_004980.4:c.1169G>A , LRG_445t1:c.1169G>A	NP_004971.2:p.Ser390Asn
NM_172198.2:c.1169G>A	NP_751948.1:p.Ser390Asn
XM_005270851.3:c.1169G>A	XP_005270908.1:p.Ser390Asn
XM_006710629.2:c.1169G>A	XP_006710692.1:p.Ser390Asn
XM_006710630.2:c.1169G>A	XP_006710693.1:p.Ser390Asn
XM_006710631.2:c.1169G>A	XP_006710694.1:p.Ser390Asn
XM_005270851.4:c.1169G>A	XP_005270908.1:p.Ser390Asn
XM_006710629.4:c.1169G>A	XP_006710692.1:p.Ser390Asn
XM_006710630.3:c.1169G>A	XP_006710693.1:p.Ser390Asn
XM_006710631.3:c.1169G>A	XP_006710694.1:p.Ser390Asn
XM_017001244.2:c.1169G>A	XP_016856733.1:p.Ser390Asn
NM_001378969.1:c.1169G>A MANE Select	NP_001365898.1:p.Ser390Asn
NM_001378970.1:c.1169G>A	NP_001365899.1:p.Ser390Asn
NM_004980.5:c.1169G>A	NP_004971.2:p.Ser390Asn
NM_172198.3:c.1169G>A	NP_751948.1:p.Ser390Asn