Canonical Allele Identifier: CA10624575

Gene: BLK

Linked Data

• ClinVar Variation Id: 361462
• ClinVar RCV Id: RCV000395605
• dbSNP Id: rs554033678
• gnomAD v3: 8-11494153-G-A
• gnomAD v4: 8-11494153-G-A
• MyVariant Identifiers: chr8:g.11351662G>A (hg19) ; chr8:g.11494153G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11494153G>A , CM000670.2:g.11494153G>A	GRCh38
NC_000008.10:g.11351662G>A , CM000670.1:g.11351662G>A	GRCh37
NC_000008.9:g.11389071G>A	NCBI36
NG_023543.1:g.5142G>A
NG_023543.2:g.5142G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.274+6986G>A
ENST00000696154.1:c.-91+6986G>A	ENSP00000512445.1:n.-91+6986G>A
ENST00000645242.1:c.-91+6986G>A	ENSP00000494690.1:n.-91+6986G>A
ENST00000259089.8:c.-440G>A	ENSP00000259089.4:n.-440G>A
NM_001715.2:c.-440G>A	NP_001706.2:n.-440G>A
XM_011543824.1:c.-440G>A	XP_011542126.1:n.-440G>A
XM_011543827.1:c.-529G>A	XP_011542129.1:n.-529G>A
XM_011543828.1:c.-440G>A	XP_011542130.1:n.-440G>A
XM_011543829.1:c.-440G>A	XP_011542131.1:n.-440G>A
NM_001330465.1:c.-529G>A	NP_001317394.1:n.-529G>A
XM_011543828.3:c.-440G>A	XP_011542130.1:n.-440G>A
XM_011543829.3:c.-440G>A	XP_011542131.1:n.-440G>A