Canonical Allele Identifier: CA579785181

Gene: BLK

Linked Data

• dbSNP Id: rs77373422
• gnomAD v2: 8-11348910-A-T
• gnomAD v3: 8-11491401-A-T
• gnomAD v4: 8-11491401-A-T
• MyVariant Identifiers: chr8:g.11348910A>T (hg19) ; chr8:g.11491401A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11491401A>T , CM000670.2:g.11491401A>T	GRCh38
NC_000008.10:g.11348910A>T , CM000670.1:g.11348910A>T	GRCh37
NC_000008.9:g.11386319A>T	NCBI36
NG_023543.1:g.2390A>T
NG_023543.2:g.2390A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.274+4234A>T
ENST00000696154.1:c.-91+4234A>T	ENSP00000512445.1:n.-91+4234A>T
ENST00000645242.1:c.-91+4234A>T	ENSP00000494690.1:n.-91+4234A>T