Canonical Allele Identifier: CA4630562

Gene: BLK

Linked Data

• ClinVar Variation Id: 909973
• ClinVar RCV Id: RCV001161460
• dbSNP Id: rs774038408
• ExAC: 8:11421988 C / A
• gnomAD v2: 8-11421988-C-A
• gnomAD v3: 8-11564479-C-A
• gnomAD v4: 8-11564479-C-A
• MyVariant Identifiers: chr8:g.11421988C>A (hg19) ; chr8:g.11564479C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564479C>A , CM000670.2:g.11564479C>A	GRCh38
NC_000008.10:g.11421988C>A , CM000670.1:g.11421988C>A	GRCh37
NC_000008.9:g.11459397C>A	NCBI36
NG_023543.1:g.75468C>A
NG_023543.2:g.75468C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1997C>A
ENST00000696154.1:c.*1207C>A	ENSP00000512445.1:n.*1207C>A
ENST00000259089.9:c.*371C>A MANE Select	ENSP00000259089.4:n.*371C>A
ENST00000645242.1:c.*371C>A	ENSP00000494690.1:n.*371C>A
ENST00000259089.8:c.*371C>A	ENSP00000259089.4:n.*371C>A
ENST00000526097.1:n.1829C>A
ENST00000529894.1:c.*371C>A	ENSP00000433663.1:n.*371C>A
NM_001715.2:c.*371C>A	NP_001706.2:n.*371C>A
XM_011543824.1:c.*371C>A	XP_011542126.1:n.*371C>A
XM_011543825.1:c.*371C>A	XP_011542127.1:n.*371C>A
XM_011543826.1:c.*371C>A	XP_011542128.1:n.*371C>A
XM_011543827.1:c.*371C>A	XP_011542129.1:n.*371C>A
NM_001330465.1:c.*371C>A	NP_001317394.1:n.*371C>A
XM_011543825.3:c.*371C>A	XP_011542127.1:n.*371C>A
NM_001715.3:c.*371C>A MANE Select	NP_001706.2:n.*371C>A
NM_001330465.2:c.*371C>A	NP_001317394.1:n.*371C>A