Canonical Allele Identifier: CA172066988

Gene: BLK

Linked Data

• dbSNP Id: rs559498258
• gnomAD v2: 8-11348895-T-C
• gnomAD v3: 8-11491386-T-C
• gnomAD v4: 8-11491386-T-C
• MyVariant Identifiers: chr8:g.11348895T>C (hg19) ; chr8:g.11491386T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11491386T>C , CM000670.2:g.11491386T>C	GRCh38
NC_000008.10:g.11348895T>C , CM000670.1:g.11348895T>C	GRCh37
NC_000008.9:g.11386304T>C	NCBI36
NG_023543.1:g.2375T>C
NG_023543.2:g.2375T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.274+4219T>C
ENST00000696154.1:c.-91+4219T>C	ENSP00000512445.1:n.-91+4219T>C
ENST00000645242.1:c.-91+4219T>C	ENSP00000494690.1:n.-91+4219T>C