Canonical Allele Identifier: CA579785245

Gene: BLK

Linked Data

• dbSNP Id: rs1219740436
• gnomAD v2: 8-11349209-C-T
• gnomAD v3: 8-11491700-C-T
• gnomAD v4: 8-11491700-C-T
• MyVariant Identifiers: chr8:g.11349209C>T (hg19) ; chr8:g.11491700C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11491700C>T , CM000670.2:g.11491700C>T	GRCh38
NC_000008.10:g.11349209C>T , CM000670.1:g.11349209C>T	GRCh37
NC_000008.9:g.11386618C>T	NCBI36
NG_023543.1:g.2689C>T
NG_023543.2:g.2689C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696154.2:n.274+4533C>T
ENST00000696154.1:c.-91+4533C>T	ENSP00000512445.1:n.-91+4533C>T
ENST00000645242.1:c.-91+4533C>T	ENSP00000494690.1:n.-91+4533C>T