Canonical Allele Identifier: CA1110720540
Gene: BLK HGNC NCBI

Linked Data

dbSNP Id: rs1798172095
gnomAD v3: 8-11491385-G-C
gnomAD v4: 8-11491385-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11491385G>C , CM000670.2:g.11491385G>C GRCh38
NC_000008.10:g.11348894G>C , CM000670.1:g.11348894G>C GRCh37
NC_000008.9:g.11386303G>C NCBI36
NG_023543.1:g.2374G>C
NG_023543.2:g.2374G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696154.2:n.274+4218G>C
ENST00000696154.1:c.-91+4218G>C ENSP00000512445.1:n.-91+4218G>C
ENST00000645242.1:c.-91+4218G>C ENSP00000494690.1:n.-91+4218G>C
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