Canonical Allele Identifier: CA1007417
Community Standard Title: NM_001378969.1(KCND3):c.1492T>C (p.Leu498=)
Gene: KCND3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.111778462A>G , CM000663.2:g.111778462A>G GRCh38
NC_000001.10:g.112321084A>G , CM000663.1:g.112321084A>G GRCh37
NC_000001.9:g.112122607A>G NCBI36
NG_032011.2:g.215694T>C , LRG_445:g.215694T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001378969.1:c.1492T>C MANE Select NP_001365898.1:p.Leu498=
ENST00000302127.5:c.1492T>C MANE Select ENSP00000306923.4:p.Leu498=
NM_001378970.1:c.1462-1189T>C NP_001365899.1:n.1462-1189T>C
NM_004980.4:c.1492T>C , LRG_445t1:c.1492T>C NP_004971.2:p.Leu498=
NM_004980.5:c.1492T>C NP_004971.2:p.Leu498=
NM_172198.2:c.1462-1189T>C NP_751948.1:n.1462-1189T>C
NM_172198.3:c.1462-1189T>C NP_751948.1:n.1462-1189T>C
ENST00000302127.4:c.1462-1189T>C ENSP00000306923.3:n.1462-1189T>C
ENST00000315987.6:c.1492T>C ENSP00000319591.2:p.Leu498=
ENST00000369697.5:c.1462-1189T>C ENSP00000358711.1:n.1462-1189T>C
ENST00000703640.1:n.2153-1189T>C
XM_005270851.3:c.1492T>C XP_005270908.1:p.Leu498=
XM_005270851.4:c.1492T>C XP_005270908.1:p.Leu498=
XM_006710629.2:c.1492T>C XP_006710692.1:p.Leu498=
XM_006710629.4:c.1492T>C XP_006710692.1:p.Leu498=
XM_006710630.2:c.1462-1189T>C XP_006710693.1:n.1462-1189T>C
XM_006710630.3:c.1462-1189T>C XP_006710693.1:n.1462-1189T>C
XM_006710631.2:c.1492T>C XP_006710694.1:p.Leu498=
XM_006710631.3:c.1492T>C XP_006710694.1:p.Leu498=
XM_017001244.2:c.1492T>C XP_016856733.1:p.Leu498=