Canonical Allele Identifier: CA10575614

Gene: CTCF

Linked Data

• ClinVar Variation Id: 88638
• ClinVar RCV Id: RCV000074335 ; RCV000413282 ; RCV002260512 ; RCV002399425
• dbSNP Id: rs879255516
• MyVariant Identifiers: chr16:g.67662453C>T (hg19) ; chr16:g.67628550C>T (hg38)
• PubMed: PMID:23746550

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67628550C>T , CM000678.2:g.67628550C>T	GRCh38
NC_000016.9:g.67662453C>T , CM000678.1:g.67662453C>T	GRCh37
NC_000016.8:g.66219954C>T	NCBI36
NG_033892.1:g.71144C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264010.10:c.1699C>T MANE Select	ENSP00000264010.4:p.Arg567Trp
ENST00000401394.6:c.715C>T	ENSP00000384707.1:p.Arg239Trp
ENST00000642420.1:n.388C>T
ENST00000642819.1:c.1699C>T	ENSP00000494408.1:p.Arg567Trp
ENST00000643892.1:c.1699C>T	ENSP00000494358.1:p.Arg567Trp
ENST00000644753.1:c.1699C>T	ENSP00000493495.1:p.Arg567Trp
ENST00000644950.1:n.1047C>T
ENST00000645306.1:c.1699C>T	ENSP00000495218.1:p.Arg567Trp
ENST00000645409.1:n.2619C>T
ENST00000645699.1:c.1699C>T	ENSP00000495348.1:p.Arg567Trp
ENST00000646076.1:c.1699C>T	ENSP00000494538.1:p.Arg567Trp
ENST00000646566.1:n.2183C>T
ENST00000646771.1:c.1699C>T	ENSP00000494443.1:p.Arg567Trp
ENST00000264010.8:c.1699C>T	ENSP00000264010.4:p.Arg567Trp
ENST00000401394.5:c.715C>T	ENSP00000384707.1:p.Arg239Trp
NM_001191022.1:c.715C>T	NP_001177951.1:p.Arg239Trp
NM_006565.3:c.1699C>T	NP_006556.1:p.Arg567Trp
XM_005255775.2:c.1699C>T	XP_005255832.1:p.Arg567Trp
NM_001363916.1:c.1699C>T	NP_001350845.1:p.Arg567Trp
XM_005255775.4:c.1699C>T	XP_005255832.1:p.Arg567Trp
XM_017022868.1:c.1699C>T	XP_016878357.1:p.Arg567Trp
NM_006565.4:c.1699C>T MANE Select	NP_006556.1:p.Arg567Trp
NM_001191022.2:c.715C>T	NP_001177951.1:p.Arg239Trp