Canonical Allele Identifier: CA10624572

Gene: BLK

Linked Data

• ClinVar Variation Id: 361457
• ClinVar RCV Id: RCV000294481
• dbSNP Id: rs115316286
• gnomAD v2: 8-11351572-G-A
• gnomAD v3: 8-11494063-G-A
• gnomAD v4: 8-11494063-G-A
• MyVariant Identifiers: chr8:g.11351572G>A (hg19) ; chr8:g.11494063G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11494063G>A , CM000670.2:g.11494063G>A	GRCh38
NC_000008.10:g.11351572G>A , CM000670.1:g.11351572G>A	GRCh37
NC_000008.9:g.11388981G>A	NCBI36
NG_023543.1:g.5052G>A
NG_023543.2:g.5052G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.274+6896G>A
ENST00000696154.1:c.-91+6896G>A	ENSP00000512445.1:n.-91+6896G>A
ENST00000645242.1:c.-91+6896G>A	ENSP00000494690.1:n.-91+6896G>A
ENST00000259089.8:c.-530G>A	ENSP00000259089.4:n.-530G>A
NM_001715.2:c.-530G>A	NP_001706.2:n.-530G>A
XM_011543824.1:c.-530G>A	XP_011542126.1:n.-530G>A
XM_011543827.1:c.-619G>A	XP_011542129.1:n.-619G>A
XM_011543828.1:c.-530G>A	XP_011542130.1:n.-530G>A
XM_011543829.1:c.-530G>A	XP_011542131.1:n.-530G>A
NM_001330465.1:c.-619G>A	NP_001317394.1:n.-619G>A
XM_011543828.3:c.-530G>A	XP_011542130.1:n.-530G>A
XM_011543829.3:c.-530G>A	XP_011542131.1:n.-530G>A