Canonical Allele Identifier: CA412884894
Community Standard Title: NM_004979.6(KCND1):c.1774C>T (p.Arg592Trp)
Gene: KCND1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48962751G>A , CM000685.2:g.48962751G>A GRCh38
NC_000023.10:g.48820012G>A , CM000685.1:g.48820012G>A GRCh37
NC_000023.9:g.48704956G>A NCBI36
NG_012515.2:g.14089C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004979.6:c.1774C>T MANE Select NP_004970.3:p.Arg592Trp
ENST00000218176.4:c.1774C>T MANE Select ENSP00000218176.3:p.Arg592Trp
NM_004979.5:c.1774C>T NP_004970.3:p.Arg592Trp
ENST00000218176.3:c.1774C>T ENSP00000218176.3:p.Arg592Trp
ENST00000376477.5:c.643C>T ENSP00000365660.1:p.Arg215Trp
XM_011543910.1:c.1774C>T XP_011542212.1:p.Arg592Trp
XM_011543910.2:c.1774C>T XP_011542212.1:p.Arg592Trp
XM_017029508.1:c.1507C>T XP_016884997.1:p.Arg503Trp
XM_017029509.1:c.1507C>T XP_016884998.1:p.Arg503Trp
XM_024452378.1:c.1858C>T XP_024308146.1:p.Arg620Trp