Canonical Allele Identifier: CA341821222

Gene: KCND3

Linked Data

• ClinVar Variation Id: 2627229
• ClinVar RCV Id: RCV003388423
• MyVariant Identifiers: chr1:g.112524501G>C (hg19) ; chr1:g.111981879G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.111981879G>C , CM000663.2:g.111981879G>C	GRCh38
NC_000001.10:g.112524501G>C , CM000663.1:g.112524501G>C	GRCh37
NC_000001.9:g.112326024G>C	NCBI36
NG_032011.2:g.12277C>G , LRG_445:g.12277C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703641.1:n.1347C>G
ENST00000703642.1:n.1153C>G
ENST00000703643.1:n.1150C>G
ENST00000302127.5:c.848C>G MANE Select	ENSP00000306923.4:p.Ser283Cys
ENST00000302127.4:c.848C>G	ENSP00000306923.3:p.Ser283Cys
ENST00000315987.6:c.848C>G	ENSP00000319591.2:p.Ser283Cys
ENST00000369697.5:c.848C>G	ENSP00000358711.1:p.Ser283Cys
NM_004980.4:c.848C>G , LRG_445t1:c.848C>G	NP_004971.2:p.Ser283Cys
NM_172198.2:c.848C>G	NP_751948.1:p.Ser283Cys
XM_005270851.3:c.848C>G	XP_005270908.1:p.Ser283Cys
XM_006710629.2:c.848C>G	XP_006710692.1:p.Ser283Cys
XM_006710630.2:c.848C>G	XP_006710693.1:p.Ser283Cys
XM_006710631.2:c.848C>G	XP_006710694.1:p.Ser283Cys
XM_006710632.2:c.848C>G	XP_006710695.1:p.Ser283Cys
XM_011541425.1:c.848C>G	XP_011539727.1:p.Ser283Cys
XM_011541426.1:c.848C>G	XP_011539728.1:p.Ser283Cys
XM_011541427.1:c.848C>G	XP_011539729.1:p.Ser283Cys
XM_011541428.1:c.848C>G	XP_011539730.1:p.Ser283Cys
XM_005270851.4:c.848C>G	XP_005270908.1:p.Ser283Cys
XM_006710629.4:c.848C>G	XP_006710692.1:p.Ser283Cys
XM_006710630.3:c.848C>G	XP_006710693.1:p.Ser283Cys
XM_006710631.3:c.848C>G	XP_006710694.1:p.Ser283Cys
XM_006710632.3:c.848C>G	XP_006710695.1:p.Ser283Cys
XM_011541425.3:c.848C>G	XP_011539727.1:p.Ser283Cys
XM_011541426.2:c.848C>G	XP_011539728.1:p.Ser283Cys
XM_011541427.3:c.848C>G	XP_011539729.1:p.Ser283Cys
XM_011541428.2:c.848C>G	XP_011539730.1:p.Ser283Cys
XM_017001244.2:c.848C>G	XP_016856733.1:p.Ser283Cys
XM_017001245.2:c.848C>G	XP_016856734.1:p.Ser283Cys
NM_001378969.1:c.848C>G MANE Select	NP_001365898.1:p.Ser283Cys
NM_001378970.1:c.848C>G	NP_001365899.1:p.Ser283Cys
NM_004980.5:c.848C>G	NP_004971.2:p.Ser283Cys
NM_172198.3:c.848C>G	NP_751948.1:p.Ser283Cys