Canonical Allele Identifier: CA370316768

Gene: BLK

Linked Data

• ClinVar Variation Id: 2428692
• ClinVar RCV Id: RCV003120293
• dbSNP Id: rs1343166542
• gnomAD v3: 8-11563983-T-C
• gnomAD v4: 8-11563983-T-C
• MyVariant Identifiers: chr8:g.11421492T>C (hg19) ; chr8:g.11563983T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563983T>C , CM000670.2:g.11563983T>C	GRCh38
NC_000008.10:g.11421492T>C , CM000670.1:g.11421492T>C	GRCh37
NC_000008.9:g.11458901T>C	NCBI36
NG_023543.1:g.74972T>C
NG_023543.2:g.74972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1501T>C
ENST00000696154.1:c.*711T>C	ENSP00000512445.1:n.*711T>C
ENST00000696155.1:n.277T>C
ENST00000259089.9:c.1393T>C MANE Select	ENSP00000259089.4:p.Tyr465His
ENST00000645242.1:c.1180T>C	ENSP00000494690.1:p.Tyr394His
ENST00000259089.8:c.1393T>C	ENSP00000259089.4:p.Tyr465His
ENST00000526097.1:n.1333T>C
ENST00000529894.1:c.1180T>C	ENSP00000433663.1:p.Tyr394His
NM_001715.2:c.1393T>C	NP_001706.2:p.Tyr465His
XM_011543824.1:c.1471T>C	XP_011542126.1:p.Tyr491His
XM_011543825.1:c.1471T>C	XP_011542127.1:p.Tyr491His
XM_011543826.1:c.1471T>C	XP_011542128.1:p.Tyr491His
XM_011543827.1:c.1258T>C	XP_011542129.1:p.Tyr420His
NM_001330465.1:c.1180T>C	NP_001317394.1:p.Tyr394His
XM_011543825.3:c.1471T>C	XP_011542127.1:p.Tyr491His
NM_001715.3:c.1393T>C MANE Select	NP_001706.2:p.Tyr465His
NM_001330465.2:c.1180T>C	NP_001317394.1:p.Tyr394His