Canonical Allele Identifier: CA10630016

Gene: BLK

Linked Data

• ClinVar Variation Id: 361502
• ClinVar RCV Id: RCV000267214
• dbSNP Id: rs886062599
• gnomAD v4: 8-11564397-G-A
• MyVariant Identifiers: chr8:g.11421906G>A (hg19) ; chr8:g.11564397G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564397G>A , CM000670.2:g.11564397G>A	GRCh38
NC_000008.10:g.11421906G>A , CM000670.1:g.11421906G>A	GRCh37
NC_000008.9:g.11459315G>A	NCBI36
NG_023543.1:g.75386G>A
NG_023543.2:g.75386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1915G>A
ENST00000696154.1:c.*1125G>A	ENSP00000512445.1:n.*1125G>A
ENST00000259089.9:c.*289G>A MANE Select	ENSP00000259089.4:n.*289G>A
ENST00000645242.1:c.*289G>A	ENSP00000494690.1:n.*289G>A
ENST00000259089.8:c.*289G>A	ENSP00000259089.4:n.*289G>A
ENST00000526097.1:n.1747G>A
ENST00000529894.1:c.*289G>A	ENSP00000433663.1:n.*289G>A
NM_001715.2:c.*289G>A	NP_001706.2:n.*289G>A
XM_011543824.1:c.*289G>A	XP_011542126.1:n.*289G>A
XM_011543825.1:c.*289G>A	XP_011542127.1:n.*289G>A
XM_011543826.1:c.*289G>A	XP_011542128.1:n.*289G>A
XM_011543827.1:c.*289G>A	XP_011542129.1:n.*289G>A
NM_001330465.1:c.*289G>A	NP_001317394.1:n.*289G>A
XM_011543825.3:c.*289G>A	XP_011542127.1:n.*289G>A
NM_001715.3:c.*289G>A MANE Select	NP_001706.2:n.*289G>A
NM_001330465.2:c.*289G>A	NP_001317394.1:n.*289G>A