Canonical Allele Identifier: CA845915422
Gene: BLK HGNC NCBI

Linked Data

dbSNP Id: rs1449763943
gnomAD v3: 8-11491396-G-T
gnomAD v4: 8-11491396-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11491396G>T , CM000670.2:g.11491396G>T GRCh38
NC_000008.10:g.11348905G>T , CM000670.1:g.11348905G>T GRCh37
NC_000008.9:g.11386314G>T NCBI36
NG_023543.1:g.2385G>T
NG_023543.2:g.2385G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696154.2:n.274+4229G>T
ENST00000696154.1:c.-91+4229G>T ENSP00000512445.1:n.-91+4229G>T
ENST00000645242.1:c.-91+4229G>T ENSP00000494690.1:n.-91+4229G>T