Canonical Allele Identifier: CA1007312
Gene: KCND3 HGNC NCBI
ClinVar RCV:
RCV002413197
ClinVar Variation:
1783070
dbSNP:
753669886
gnomAD v2:
1:112318725 T / C
gnomAD v3:
1:111776103 T / C
gnomAD v4:
chr1-111776103-T-C
Joint Max Group AF 0.00000443 (AFR)
MyVariant.info:
GRCh38 chr1:g.111776103T>C
GRCh37 chr1:g.112318725T>C
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.111776103T>C , CM000663.2:g.111776103T>C GRCh38
NC_000001.10:g.112318725T>C , CM000663.1:g.112318725T>C GRCh37
NC_000001.9:g.112120248T>C NCBI36
NG_032011.2:g.218053A>G , LRG_445:g.218053A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302127.5:c.1942A>G MANE Select ENSP00000306923.4:p.Asn648Asp
ENST00000302127.4:c.1885A>G ENSP00000306923.3:p.Asn629Asp
ENST00000315987.6:c.1942A>G ENSP00000319591.2:p.Asn648Asp
ENST00000369697.5:c.1885A>G ENSP00000358711.1:p.Asn629Asp
NM_004980.4:c.1942A>G , LRG_445t1:c.1942A>G NP_004971.2:p.Asn648Asp
NM_172198.2:c.1885A>G NP_751948.1:p.Asn629Asp
XM_005270851.3:c.1942A>G XP_005270908.1:p.Asn648Asp
XM_006710629.2:c.1942A>G XP_006710692.1:p.Asn648Asp
XM_006710630.2:c.1885A>G XP_006710693.1:p.Asn629Asp
XM_005270851.4:c.1942A>G XP_005270908.1:p.Asn648Asp
XM_006710629.4:c.1942A>G XP_006710692.1:p.Asn648Asp
XM_006710630.3:c.1885A>G XP_006710693.1:p.Asn629Asp
XM_017001244.2:c.1942A>G XP_016856733.1:p.Asn648Asp
NM_001378969.1:c.1942A>G MANE Select NP_001365898.1:p.Asn648Asp
NM_001378970.1:c.1885A>G NP_001365899.1:p.Asn629Asp
NM_004980.5:c.1942A>G NP_004971.2:p.Asn648Asp
NM_172198.3:c.1885A>G NP_751948.1:p.Asn629Asp
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