Canonical Allele Identifier: CA7339687
Community Standard Title: NM_138576.4(BCL11B):c.1323T>C (p.Asn441=)
Gene: BCL11B HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_138576.4:c.1323T>C MANE Select NP_612808.1:p.Asn441=
ENST00000357195.8:c.1323T>C MANE Select ENSP00000349723.3:p.Asn441=
NM_001282237.1:c.1320T>C NP_001269166.1:p.Asn440=
NM_001282237.2:c.1320T>C NP_001269166.1:p.Asn440=
NM_001282238.1:c.1107T>C NP_001269167.1:p.Asn369=
NM_001282238.2:c.1107T>C NP_001269167.1:p.Asn369=
NM_022898.2:c.1110T>C NP_075049.1:p.Asn370=
NM_022898.3:c.1110T>C NP_075049.1:p.Asn370=
NM_138576.3:c.1323T>C NP_612808.1:p.Asn441=
ENST00000345514.2:c.1110T>C ENSP00000280435.6:p.Asn370=
ENST00000357195.7:c.1323T>C ENSP00000349723.3:p.Asn441=
ENST00000443726.2:c.741T>C ENSP00000387419.2:p.Asn247=
XM_011537100.1:c.1185T>C XP_011535402.1:p.Asn395=