Canonical Allele Identifier: CA10586691

Gene: BCL11B

Linked Data

• ClinVar Variation Id: 254673
• ClinVar RCV Id: RCV000241534 ; RCV000412543
• dbSNP Id: rs750610248
• MyVariant Identifiers: chr14:g.99641850A>C (hg19) ; chr14:g.99175513A>C (hg38)
• PubMed: PMID:25627829 ; PMID:27959755

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.99175513A>C , CM000676.2:g.99175513A>C	GRCh38
NC_000014.8:g.99641850A>C , CM000676.1:g.99641850A>C	GRCh37
NC_000014.7:g.98711603A>C	NCBI36
NG_027894.1:g.100973T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357195.8:c.1323T>G MANE Select	ENSP00000349723.3:p.Asn441Lys
ENST00000345514.2:c.1110T>G	ENSP00000280435.6:p.Asn370Lys
ENST00000357195.7:c.1323T>G	ENSP00000349723.3:p.Asn441Lys
ENST00000443726.2:c.741T>G	ENSP00000387419.2:p.Asn247Lys
NM_001282237.1:c.1320T>G	NP_001269166.1:p.Asn440Lys
NM_001282238.1:c.1107T>G	NP_001269167.1:p.Asn369Lys
NM_022898.2:c.1110T>G	NP_075049.1:p.Asn370Lys
NM_138576.3:c.1323T>G	NP_612808.1:p.Asn441Lys
XM_011537100.1:c.1185T>G	XP_011535402.1:p.Asn395Lys
NM_138576.4:c.1323T>G MANE Select	NP_612808.1:p.Asn441Lys
NM_001282237.2:c.1320T>G	NP_001269166.1:p.Asn440Lys
NM_001282238.2:c.1107T>G	NP_001269167.1:p.Asn369Lys
NM_022898.3:c.1110T>G	NP_075049.1:p.Asn370Lys