Canonical Allele Identifier: CA1007340
Community Standard Title: NM_001378969.1(KCND3):c.1769G>A (p.Arg590His)
Gene: KCND3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.111776276C>T , CM000663.2:g.111776276C>T GRCh38
NC_000001.10:g.112318898C>T , CM000663.1:g.112318898C>T GRCh37
NC_000001.9:g.112120421C>T NCBI36
NG_032011.2:g.217880G>A , LRG_445:g.217880G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001378969.1:c.1769G>A MANE Select NP_001365898.1:p.Arg590His
ENST00000302127.5:c.1769G>A MANE Select ENSP00000306923.4:p.Arg590His
NM_001378970.1:c.1712G>A NP_001365899.1:p.Arg571His
NM_004980.4:c.1769G>A , LRG_445t1:c.1769G>A NP_004971.2:p.Arg590His
NM_004980.5:c.1769G>A NP_004971.2:p.Arg590His
NM_172198.2:c.1712G>A NP_751948.1:p.Arg571His
NM_172198.3:c.1712G>A NP_751948.1:p.Arg571His
ENST00000302127.4:c.1712G>A ENSP00000306923.3:p.Arg571His
ENST00000315987.6:c.1769G>A ENSP00000319591.2:p.Arg590His
ENST00000369697.5:c.1712G>A ENSP00000358711.1:p.Arg571His
XM_005270851.3:c.1769G>A XP_005270908.1:p.Arg590His
XM_005270851.4:c.1769G>A XP_005270908.1:p.Arg590His
XM_006710629.2:c.1769G>A XP_006710692.1:p.Arg590His
XM_006710629.4:c.1769G>A XP_006710692.1:p.Arg590His
XM_006710630.2:c.1712G>A XP_006710693.1:p.Arg571His
XM_006710630.3:c.1712G>A XP_006710693.1:p.Arg571His
XM_006710631.2:c.1521G>A XP_006710694.1:p.Ser507=
XM_006710631.3:c.1521G>A XP_006710694.1:p.Ser507=
XM_017001244.2:c.1769G>A XP_016856733.1:p.Arg590His