Canonical Allele Identifier: CA4630529

Gene: BLK

Linked Data

• ClinVar Variation Id: 3037816
• ClinVar RCV Id: RCV003917191
• dbSNP Id: rs755315801
• ExAC: 8:11421563 G / A
• gnomAD v2: 8-11421563-G-A
• gnomAD v3: 8-11564054-G-A
• gnomAD v4: 8-11564054-G-A
• MyVariant Identifiers: chr8:g.11421563G>A (hg19) ; chr8:g.11564054G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564054G>A , CM000670.2:g.11564054G>A	GRCh38
NC_000008.10:g.11421563G>A , CM000670.1:g.11421563G>A	GRCh37
NC_000008.9:g.11458972G>A	NCBI36
NG_023543.1:g.75043G>A
NG_023543.2:g.75043G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1572G>A
ENST00000696154.1:c.*782G>A	ENSP00000512445.1:n.*782G>A
ENST00000696155.1:n.348G>A
ENST00000259089.9:c.1464G>A MANE Select	ENSP00000259089.4:p.Ser488=
ENST00000645242.1:c.1251G>A	ENSP00000494690.1:p.Ser417=
ENST00000259089.8:c.1464G>A	ENSP00000259089.4:p.Ser488=
ENST00000526097.1:n.1404G>A
ENST00000529894.1:c.1251G>A	ENSP00000433663.1:p.Ser417=
NM_001715.2:c.1464G>A	NP_001706.2:p.Ser488=
XM_011543824.1:c.1542G>A	XP_011542126.1:p.Ser514=
XM_011543825.1:c.1542G>A	XP_011542127.1:p.Ser514=
XM_011543826.1:c.1542G>A	XP_011542128.1:p.Ser514=
XM_011543827.1:c.1329G>A	XP_011542129.1:p.Ser443=
NM_001330465.1:c.1251G>A	NP_001317394.1:p.Ser417=
XM_011543825.3:c.1542G>A	XP_011542127.1:p.Ser514=
NM_001715.3:c.1464G>A MANE Select	NP_001706.2:p.Ser488=
NM_001330465.2:c.1251G>A	NP_001317394.1:p.Ser417=