Canonical Allele Identifier: CA4629738
Gene: BLK HGNC NCBI

Linked Data

dbSNP Id: rs772755122
gnomAD v2: 8-11405498-T-C
gnomAD v3: 8-11547989-T-C
gnomAD v4: 8-11547989-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11547989T>C , CM000670.2:g.11547989T>C GRCh38
NC_000008.10:g.11405498T>C , CM000670.1:g.11405498T>C GRCh37
NC_000008.9:g.11442907T>C NCBI36
NG_023543.1:g.58978T>C
NG_023543.2:g.58978T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696154.2:n.327-43T>C
ENST00000696154.1:c.-38-43T>C ENSP00000512445.1:n.-38-43T>C
ENST00000259089.9:c.176-43T>C MANE Select ENSP00000259089.4:n.176-43T>C
ENST00000645242.1:c.-38-43T>C ENSP00000494690.1:n.-38-43T>C
ENST00000259089.8:c.176-43T>C ENSP00000259089.4:n.176-43T>C
ENST00000529894.1:c.-38-43T>C ENSP00000433663.1:n.-38-43T>C
ENST00000533828.1:n.374-43T>C
NM_001715.2:c.176-43T>C NP_001706.2:n.176-43T>C
XM_011543824.1:c.176-43T>C XP_011542126.1:n.176-43T>C
XM_011543825.1:c.176-43T>C XP_011542127.1:n.176-43T>C
XM_011543826.1:c.176-43T>C XP_011542128.1:n.176-43T>C
XM_011543827.1:c.-38-43T>C XP_011542129.1:n.-38-43T>C
XM_011543828.1:c.176-43T>C XP_011542130.1:n.176-43T>C
XM_011543829.1:c.176-43T>C XP_011542131.1:n.176-43T>C
NM_001330465.1:c.-38-43T>C NP_001317394.1:n.-38-43T>C
XM_011543825.3:c.176-43T>C XP_011542127.1:n.176-43T>C
XM_011543828.3:c.176-43T>C XP_011542130.1:n.176-43T>C
XM_011543829.3:c.176-43T>C XP_011542131.1:n.176-43T>C
NM_001715.3:c.176-43T>C MANE Select NP_001706.2:n.176-43T>C
NM_001330465.2:c.-38-43T>C NP_001317394.1:n.-38-43T>C