Canonical Allele Identifier: CA16044213

Gene: KCND3

Linked Data

• ClinVar Variation Id: 375399
• ClinVar RCV Id: RCV000416456
• dbSNP Id: rs1057519453
• MyVariant Identifiers: chr1:g.112329682A>G (hg19) ; chr1:g.111787060A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111787060A>G , CM000663.2:g.111787060A>G	GRCh38
NC_000001.10:g.112329682A>G , CM000663.1:g.112329682A>G	GRCh37
NC_000001.9:g.112131205A>G	NCBI36
NG_032011.2:g.207096T>C , LRG_445:g.207096T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302127.5:c.1153T>C MANE Select	ENSP00000306923.4:p.Ser385Pro
ENST00000302127.4:c.1153T>C	ENSP00000306923.3:p.Ser385Pro
ENST00000315987.6:c.1153T>C	ENSP00000319591.2:p.Ser385Pro
ENST00000369697.5:c.1153T>C	ENSP00000358711.1:p.Ser385Pro
NM_004980.4:c.1153T>C , LRG_445t1:c.1153T>C	NP_004971.2:p.Ser385Pro
NM_172198.2:c.1153T>C	NP_751948.1:p.Ser385Pro
XM_005270851.3:c.1153T>C	XP_005270908.1:p.Ser385Pro
XM_006710629.2:c.1153T>C	XP_006710692.1:p.Ser385Pro
XM_006710630.2:c.1153T>C	XP_006710693.1:p.Ser385Pro
XM_006710631.2:c.1153T>C	XP_006710694.1:p.Ser385Pro
XM_005270851.4:c.1153T>C	XP_005270908.1:p.Ser385Pro
XM_006710629.4:c.1153T>C	XP_006710692.1:p.Ser385Pro
XM_006710630.3:c.1153T>C	XP_006710693.1:p.Ser385Pro
XM_006710631.3:c.1153T>C	XP_006710694.1:p.Ser385Pro
XM_017001244.2:c.1153T>C	XP_016856733.1:p.Ser385Pro
NM_001378969.1:c.1153T>C MANE Select	NP_001365898.1:p.Ser385Pro
NM_001378970.1:c.1153T>C	NP_001365899.1:p.Ser385Pro
NM_004980.5:c.1153T>C	NP_004971.2:p.Ser385Pro
NM_172198.3:c.1153T>C	NP_751948.1:p.Ser385Pro