Canonical Allele Identifier: CA172067153
Gene: BLK HGNC NCBI

Linked Data

dbSNP Id: rs939414496
gnomAD v2: 8-11349031-G-C
gnomAD v3: 8-11491522-G-C
gnomAD v4: 8-11491522-G-C
MyVariant Identifiers: chr8:g.11349031G>C (hg19) chr8:g.11491522G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11491522G>C , CM000670.2:g.11491522G>C GRCh38
NC_000008.10:g.11349031G>C , CM000670.1:g.11349031G>C GRCh37
NC_000008.9:g.11386440G>C NCBI36
NG_023543.1:g.2511G>C
NG_023543.2:g.2511G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696154.2:n.274+4355G>C
ENST00000696154.1:c.-91+4355G>C ENSP00000512445.1:n.-91+4355G>C
ENST00000645242.1:c.-91+4355G>C ENSP00000494690.1:n.-91+4355G>C
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