Canonical Allele Identifier: CA341659216
Gene: KCND3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.111780748G>C
GRCh37 chr1:g.112323370G>C
Revel Score:
ENST00000369697 0.700
ENST00000315987 0.700
ENST00000302127 (MANE Select) 0.700
gnomAD v3:
1:111780748 G / C
gnomAD v4:
chr1-111780748-G-C
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV000542424
ClinVar Variation:
465164
dbSNP:
1172444288
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.111780748G>C , CM000663.2:g.111780748G>C GRCh38
NC_000001.10:g.112323370G>C , CM000663.1:g.112323370G>C GRCh37
NC_000001.9:g.112124893G>C NCBI36
NG_032011.2:g.213408C>G , LRG_445:g.213408C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703640.1:n.2004C>G
ENST00000302127.5:c.1313C>G MANE Select ENSP00000306923.4:p.Ser438Trp
ENST00000302127.4:c.1313C>G ENSP00000306923.3:p.Ser438Trp
ENST00000315987.6:c.1313C>G ENSP00000319591.2:p.Ser438Trp
ENST00000369697.5:c.1313C>G ENSP00000358711.1:p.Ser438Trp
NM_004980.4:c.1313C>G , LRG_445t1:c.1313C>G NP_004971.2:p.Ser438Trp
NM_172198.2:c.1313C>G NP_751948.1:p.Ser438Trp
XM_005270851.3:c.1313C>G XP_005270908.1:p.Ser438Trp
XM_006710629.2:c.1313C>G XP_006710692.1:p.Ser438Trp
XM_006710630.2:c.1313C>G XP_006710693.1:p.Ser438Trp
XM_006710631.2:c.1313C>G XP_006710694.1:p.Ser438Trp
XM_005270851.4:c.1313C>G XP_005270908.1:p.Ser438Trp
XM_006710629.4:c.1313C>G XP_006710692.1:p.Ser438Trp
XM_006710630.3:c.1313C>G XP_006710693.1:p.Ser438Trp
XM_006710631.3:c.1313C>G XP_006710694.1:p.Ser438Trp
XM_017001244.2:c.1313C>G XP_016856733.1:p.Ser438Trp
NM_001378969.1:c.1313C>G MANE Select NP_001365898.1:p.Ser438Trp
NM_001378970.1:c.1313C>G NP_001365899.1:p.Ser438Trp
NM_004980.5:c.1313C>G NP_004971.2:p.Ser438Trp
NM_172198.3:c.1313C>G NP_751948.1:p.Ser438Trp
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