Canonical Allele Identifier: CA174308

Gene: CD244

Linked Data

• ClinVar Variation Id: 161545
• ClinVar RCV Id: RCV000149080
• dbSNP Id: rs193921024
• COSMIC: COSM1178906 ; COSM1178907
• MyVariant Identifiers: chr1:g.160802355C>T (hg19) ; chr1:g.160832565C>T (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160832565C>T , CM000663.2:g.160832565C>T	GRCh38
NC_000001.10:g.160802355C>T , CM000663.1:g.160802355C>T	GRCh37
NC_000001.9:g.159068979C>T	NCBI36
NG_015991.1:g.35338G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368034.9:c.971G>A MANE Select	ENSP00000357013.4:p.Arg324Lys
ENST00000322302.7:c.695G>A	ENSP00000313619.7:p.Arg232Lys
ENST00000368033.7:c.986G>A	ENSP00000357012.3:p.Arg329Lys
ENST00000368034.8:c.971G>A	ENSP00000357013.4:p.Arg324Lys
ENST00000481677.1:n.491G>A
ENST00000492063.5:c.*125G>A	ENSP00000432636.1:n.*125G>A
NM_001166663.1:c.986G>A	NP_001160135.1:p.Arg329Lys
NM_001166664.1:c.695G>A	NP_001160136.1:p.Arg232Lys
NM_016382.3:c.971G>A	NP_057466.1:p.Arg324Lys
XM_011509620.1:c.926G>A	XP_011507922.1:p.Arg309Lys
XM_011509623.1:c.377G>A	XP_011507925.1:p.Arg126Lys
XM_011509623.3:c.377G>A	XP_011507925.1:p.Arg126Lys
XR_001737229.1:n.1459G>A
NM_016382.4:c.971G>A MANE Select	NP_057466.1:p.Arg324Lys
NM_001166663.2:c.986G>A	NP_001160135.1:p.Arg329Lys
NM_001166664.2:c.695G>A	NP_001160136.1:p.Arg232Lys