Canonical Allele Identifier: CA16042284
Gene: KCND3 HGNC NCBI

Linked Data

ClinVar Variation Id: 372829
ClinVar RCV Id: RCV000413161
dbSNP Id: rs1057518007
MyVariant Identifiers: chr1:g.112329640C>G (hg19) chr1:g.111787018C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.111787018C>G , CM000663.2:g.111787018C>G GRCh38
NC_000001.10:g.112329640C>G , CM000663.1:g.112329640C>G GRCh37
NC_000001.9:g.112131163C>G NCBI36
NG_032011.2:g.207138G>C , LRG_445:g.207138G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000302127.5:c.1195G>C MANE Select ENSP00000306923.4:p.Val399Leu
ENST00000302127.4:c.1195G>C ENSP00000306923.3:p.Val399Leu
ENST00000315987.6:c.1195G>C ENSP00000319591.2:p.Val399Leu
ENST00000369697.5:c.1195G>C ENSP00000358711.1:p.Val399Leu
NM_004980.4:c.1195G>C , LRG_445t1:c.1195G>C NP_004971.2:p.Val399Leu
NM_172198.2:c.1195G>C NP_751948.1:p.Val399Leu
XM_005270851.3:c.1195G>C XP_005270908.1:p.Val399Leu
XM_006710629.2:c.1195G>C XP_006710692.1:p.Val399Leu
XM_006710630.2:c.1195G>C XP_006710693.1:p.Val399Leu
XM_006710631.2:c.1195G>C XP_006710694.1:p.Val399Leu
XM_005270851.4:c.1195G>C XP_005270908.1:p.Val399Leu
XM_006710629.4:c.1195G>C XP_006710692.1:p.Val399Leu
XM_006710630.3:c.1195G>C XP_006710693.1:p.Val399Leu
XM_006710631.3:c.1195G>C XP_006710694.1:p.Val399Leu
XM_017001244.2:c.1195G>C XP_016856733.1:p.Val399Leu
NM_001378969.1:c.1195G>C MANE Select NP_001365898.1:p.Val399Leu
NM_001378970.1:c.1195G>C NP_001365899.1:p.Val399Leu
NM_004980.5:c.1195G>C NP_004971.2:p.Val399Leu
NM_172198.3:c.1195G>C NP_751948.1:p.Val399Leu
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