Canonical Allele Identifier: CA370316781

Gene: BLK

Linked Data

• ClinVar Variation Id: 3134124
• ClinVar RCV Id: RCV004431477
• dbSNP Id: rs1181355220
• gnomAD v2: 8-11421496-G-A
• gnomAD v3: 8-11563987-G-A
• gnomAD v4: 8-11563987-G-A
• COSMIC: COSM4645633
• MyVariant Identifiers: chr8:g.11421496G>A (hg19) ; chr8:g.11563987G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563987G>A , CM000670.2:g.11563987G>A	GRCh38
NC_000008.10:g.11421496G>A , CM000670.1:g.11421496G>A	GRCh37
NC_000008.9:g.11458905G>A	NCBI36
NG_023543.1:g.74976G>A
NG_023543.2:g.74976G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1505G>A
ENST00000696154.1:c.*715G>A	ENSP00000512445.1:n.*715G>A
ENST00000696155.1:n.281G>A
ENST00000259089.9:c.1397G>A MANE Select	ENSP00000259089.4:p.Arg466His
ENST00000645242.1:c.1184G>A	ENSP00000494690.1:p.Arg395His
ENST00000259089.8:c.1397G>A	ENSP00000259089.4:p.Arg466His
ENST00000526097.1:n.1337G>A
ENST00000529894.1:c.1184G>A	ENSP00000433663.1:p.Arg395His
NM_001715.2:c.1397G>A	NP_001706.2:p.Arg466His
XM_011543824.1:c.1475G>A	XP_011542126.1:p.Arg492His
XM_011543825.1:c.1475G>A	XP_011542127.1:p.Arg492His
XM_011543826.1:c.1475G>A	XP_011542128.1:p.Arg492His
XM_011543827.1:c.1262G>A	XP_011542129.1:p.Arg421His
NM_001330465.1:c.1184G>A	NP_001317394.1:p.Arg395His
XM_011543825.3:c.1475G>A	XP_011542127.1:p.Arg492His
NM_001715.3:c.1397G>A MANE Select	NP_001706.2:p.Arg466His
NM_001330465.2:c.1184G>A	NP_001317394.1:p.Arg395His