Canonical Allele Identifier: CA6021653
Gene: CBLIF HGNC NCBI

Linked Data

ClinVar Variation Id: 305043
ClinVar RCV Id: RCV000326236
dbSNP Id: rs139444835
ExAC: 11:59611390 T / C
gnomAD v2: 11-59611390-T-C
gnomAD v3: 11-59843917-T-C
gnomAD v4: 11-59843917-T-C
MyVariant Identifiers: chr11:g.59611390T>C (hg19) chr11:g.59843917T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.59843917T>C , CM000673.2:g.59843917T>C GRCh38
NC_000011.9:g.59611390T>C , CM000673.1:g.59611390T>C GRCh37
NC_000011.8:g.59367966T>C NCBI36
NG_008120.1:g.6585A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000257248.3:c.218A>G MANE Select ENSP00000257248.2:p.Lys73Arg
ENST00000257248.2:c.218A>G ENSP00000257248.2:p.Lys73Arg
ENST00000525058.5:c.*185A>G ENSP00000433196.1:n.*185A>G
ENST00000532070.1:n.264A>G
NM_005142.2:c.218A>G NP_005133.2:p.Lys73Arg
XM_011544939.1:c.218A>G XP_011543241.1:p.Lys73Arg
XM_011544939.3:c.218A>G XP_011543241.1:p.Lys73Arg
NM_005142.3:c.218A>G MANE Select NP_005133.2:p.Lys73Arg
Search 100 bp 5'
Search 100 bp 3'