Canonical Allele Identifier: CA115169
Gene: CBLIF HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.59843998G>A
GRCh37 chr11:g.59611471G>A
Revel Score:
ENST00000257248 (MANE Select) 0.266
ENST00000541311 0.266
gnomAD v2:
11:59611471 G / A
gnomAD v3:
11:59843998 G / A
gnomAD v4:
chr11-59843998-G-A
Joint Max Group AF 0.0004741 (AMR)
Genomes Max Group AF 0.00003249 (AFR)
Exomes Max Group AF 0.00059771 (AMR)
ClinVar RCV:
RCV000001816
ClinVar Variation:
1746
dbSNP:
121434322
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.59843998G>A , CM000673.2:g.59843998G>A GRCh38
NC_000011.9:g.59611471G>A , CM000673.1:g.59611471G>A GRCh37
NC_000011.8:g.59368047G>A NCBI36
NG_008120.1:g.6504C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000257248.3:c.137C>T MANE Select ENSP00000257248.2:p.Ser46Leu
ENST00000257248.2:c.137C>T ENSP00000257248.2:p.Ser46Leu
ENST00000525058.5:c.*104C>T ENSP00000433196.1:n.*104C>T
ENST00000532070.1:n.183C>T
NM_005142.2:c.137C>T NP_005133.2:p.Ser46Leu
XM_011544939.1:c.137C>T XP_011543241.1:p.Ser46Leu
XM_011544939.3:c.137C>T XP_011543241.1:p.Ser46Leu
NM_005142.3:c.137C>T MANE Select NP_005133.2:p.Ser46Leu
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