Canonical Allele Identifier: CA390933062

Gene: BCL11B

Linked Data

• ClinVar Variation Id: 1164020
• ClinVar RCV Id: RCV001726571 ; RCV001788503 ; RCV004007233
• dbSNP Id: rs2139752892
• MyVariant Identifiers: chr14:g.99640666C>T (hg19) ; chr14:g.99174329C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.99174329C>T , CM000676.2:g.99174329C>T	GRCh38
NC_000014.8:g.99640666C>T , CM000676.1:g.99640666C>T	GRCh37
NC_000014.7:g.98710419C>T	NCBI36
NG_027894.1:g.102157G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357195.8:c.2507G>A MANE Select	ENSP00000349723.3:p.Ser836Asn
ENST00000345514.2:c.2294G>A	ENSP00000280435.6:p.Ser765Asn
ENST00000357195.7:c.2507G>A	ENSP00000349723.3:p.Ser836Asn
ENST00000443726.2:c.1925G>A	ENSP00000387419.2:p.Ser642Asn
NM_001282237.1:c.2504G>A	NP_001269166.1:p.Ser835Asn
NM_001282238.1:c.2291G>A	NP_001269167.1:p.Ser764Asn
NM_022898.2:c.2294G>A	NP_075049.1:p.Ser765Asn
NM_138576.3:c.2507G>A	NP_612808.1:p.Ser836Asn
XM_011537100.1:c.2369G>A	XP_011535402.1:p.Ser790Asn
NM_138576.4:c.2507G>A MANE Select	NP_612808.1:p.Ser836Asn
NM_001282237.2:c.2504G>A	NP_001269166.1:p.Ser835Asn
NM_001282238.2:c.2291G>A	NP_001269167.1:p.Ser764Asn
NM_022898.3:c.2294G>A	NP_075049.1:p.Ser765Asn