Canonical Allele Identifier: CA845915606

Gene: BLK

Linked Data

• dbSNP Id: rs1216392492
• gnomAD v3: 8-11491679-C-G
• gnomAD v4: 8-11491679-C-G
• MyVariant Identifiers: chr8:g.11349188C>G (hg19) ; chr8:g.11491679C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11491679C>G , CM000670.2:g.11491679C>G	GRCh38
NC_000008.10:g.11349188C>G , CM000670.1:g.11349188C>G	GRCh37
NC_000008.9:g.11386597C>G	NCBI36
NG_023543.1:g.2668C>G
NG_023543.2:g.2668C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696154.2:n.274+4512C>G
ENST00000696154.1:c.-91+4512C>G	ENSP00000512445.1:n.-91+4512C>G
ENST00000645242.1:c.-91+4512C>G	ENSP00000494690.1:n.-91+4512C>G