Canonical Allele Identifier: CA6136064

Gene: CLCF1 RAD9A

Linked Data

• ClinVar Variation Id: 713415
• ClinVar RCV Id: RCV000885553 ; RCV002265908
• dbSNP Id: rs140997186
• ExAC: 11:67132618 GAGCCCCC / G
• gnomAD v2: 11-67132618-GAGCCCCC-G
• gnomAD v3: 11-67365147-GAGCCCCC-G
• gnomAD v4: 11-67365147-GAGCCCCC-G
• MyVariant Identifiers: chr11:g.67132619_67132625del (hg19) ; chr11:g.67365149_67365155del (hg38) ; chr11:g.67365148_67365154del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67365150_67365156del , CM000673.2:g.67365150_67365156del	GRCh38
NC_000011.9:g.67132621_67132627del , CM000673.1:g.67132621_67132627del	GRCh37
NC_000011.8:g.66889197_66889203del	NCBI36
NG_013377.1:g.14024_14030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312438.8:c.660_666del (CLCF1) MANE Select	ENSP00000309338.7:p.Gly221MetfsTer6
ENST00000312438.7:c.660_666del (CLCF1)	ENSP00000309338.7:p.Gly221MetfsTer6
ENST00000533438.1:c.630_636del (CLCF1)	ENSP00000434122.1:p.Gly211MetfsTer6
ENST00000543494.1:c.16+8370_16+8376del	ENSP00000480527.1:n.16+8370_16+8376del
ENST00000622583.4:n.392-22385_392-22379del (RAD9A)
NM_001166212.1:c.630_636del (CLCF1)	NP_001159684.1:p.Gly211MetfsTer6
NM_013246.2:c.660_666del (CLCF1)	NP_037378.1:p.Gly221MetfsTer6
NR_024469.1:n.424-22385_424-22379del
NM_013246.3:c.660_666del (CLCF1) MANE Select	NP_037378.1:p.Gly221MetfsTer6
NM_001166212.2:c.630_636del (CLCF1)	NP_001159684.1:p.Gly211MetfsTer6