Canonical Allele Identifier: CA172067337

Gene: BLK

Linked Data

• dbSNP Id: rs150392340
• gnomAD v2: 8-11349208-A-G
• gnomAD v3: 8-11491699-A-G
• gnomAD v4: 8-11491699-A-G
• MyVariant Identifiers: chr8:g.11349208A>G (hg19) ; chr8:g.11349208_11349210delinsGCC (hg19) ; chr8:g.11491699A>G (hg38) ; chr8:g.11491699_11491701delinsGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11491699A>G , CM000670.2:g.11491699A>G	GRCh38
NC_000008.10:g.11349208A>G , CM000670.1:g.11349208A>G	GRCh37
NC_000008.9:g.11386617A>G	NCBI36
NG_023543.1:g.2688A>G
NG_023543.2:g.2688A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696154.2:n.274+4532A>G
ENST00000696154.1:c.-91+4532A>G	ENSP00000512445.1:n.-91+4532A>G
ENST00000645242.1:c.-91+4532A>G	ENSP00000494690.1:n.-91+4532A>G