Canonical Allele Identifier: CA172067179
Gene: BLK HGNC NCBI

Linked Data

dbSNP Id: rs941176206
gnomAD v3: 8-11491548-A-G
gnomAD v4: 8-11491548-A-G
MyVariant Identifiers: chr8:g.11349057A>G (hg19) chr8:g.11491548A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11491548A>G , CM000670.2:g.11491548A>G GRCh38
NC_000008.10:g.11349057A>G , CM000670.1:g.11349057A>G GRCh37
NC_000008.9:g.11386466A>G NCBI36
NG_023543.1:g.2537A>G
NG_023543.2:g.2537A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696154.2:n.274+4381A>G
ENST00000696154.1:c.-91+4381A>G ENSP00000512445.1:n.-91+4381A>G
ENST00000645242.1:c.-91+4381A>G ENSP00000494690.1:n.-91+4381A>G
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