Canonical Allele Identifier: CA342141

Linked Data

ClinVar Variation Id: 21503
ClinVar RCV Id: RCV000020692
dbSNP Id: rs137853934

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67367597A>G , CM000673.2:g.67367597A>G GRCh38
NC_000011.9:g.67135068A>G , CM000673.1:g.67135068A>G GRCh37
NC_000011.8:g.66891644A>G NCBI36
NG_013377.1:g.11581T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000312438.8:c.46T>C (CLCF1) MANE Select ENSP00000309338.7:p.Cys16Arg
ENST00000312438.7:c.46T>C (CLCF1) ENSP00000309338.7:p.Cys16Arg
ENST00000533438.1:c.16T>C (CLCF1) ENSP00000434122.1:p.Cys6Arg
ENST00000543494.1:c.16+5927T>C ENSP00000480527.1:n.16+5927T>C
ENST00000622583.4:n.392-19938A>G (RAD9A)
NM_001166212.1:c.16T>C (CLCF1) NP_001159684.1:p.Cys6Arg
NM_013246.2:c.46T>C (CLCF1) NP_037378.1:p.Cys16Arg
NR_024469.1:n.424-19938A>G
NM_013246.3:c.46T>C (CLCF1) MANE Select NP_037378.1:p.Cys16Arg
NM_001166212.2:c.16T>C (CLCF1) NP_001159684.1:p.Cys6Arg