Canonical Allele Identifier: CA6021616

Gene: CBLIF

Linked Data

• ClinVar Variation Id: 305040
• ClinVar RCV Id: RCV000329880 ; RCV003114474
• dbSNP Id: rs150884181
• ExAC: 11:59610581 A / G
• gnomAD v2: 11-59610581-A-G
• gnomAD v3: 11-59843108-A-G
• gnomAD v4: 11-59843108-A-G
• MyVariant Identifiers: chr11:g.59610581A>G (hg19) ; chr11:g.59843108A>G (hg38)
• PubMed: PMID:20408840 ; PMID:22929189 ; PMID:23402911

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.59843108A>G , CM000673.2:g.59843108A>G	GRCh38
NC_000011.9:g.59610581A>G , CM000673.1:g.59610581A>G	GRCh37
NC_000011.8:g.59367157A>G	NCBI36
NG_008120.1:g.7394T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000257248.3:c.290T>C MANE Select	ENSP00000257248.2:p.Met97Thr
ENST00000257248.2:c.290T>C	ENSP00000257248.2:p.Met97Thr
ENST00000525058.5:c.*257T>C	ENSP00000433196.1:n.*257T>C
ENST00000532070.1:n.336T>C
NM_005142.2:c.290T>C	NP_005133.2:p.Met97Thr
XM_011544939.1:c.290T>C	XP_011543241.1:p.Met97Thr
XM_011544939.3:c.290T>C	XP_011543241.1:p.Met97Thr
NM_005142.3:c.290T>C MANE Select	NP_005133.2:p.Met97Thr