Canonical Allele Identifier: CA4630527

Gene: BLK

Linked Data

• ClinVar Variation Id: 2764768
• ClinVar RCV Id: RCV003572670
• dbSNP Id: rs766841412
• ExAC: 8:11421559 A / G
• gnomAD v2: 8-11421559-A-G
• gnomAD v4: 8-11564050-A-G
• MyVariant Identifiers: chr8:g.11421559A>G (hg19) ; chr8:g.11564050A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564050A>G , CM000670.2:g.11564050A>G	GRCh38
NC_000008.10:g.11421559A>G , CM000670.1:g.11421559A>G	GRCh37
NC_000008.9:g.11458968A>G	NCBI36
NG_023543.1:g.75039A>G
NG_023543.2:g.75039A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1568A>G
ENST00000696154.1:c.*778A>G	ENSP00000512445.1:n.*778A>G
ENST00000696155.1:n.344A>G
ENST00000259089.9:c.1460A>G MANE Select	ENSP00000259089.4:p.Gln487Arg
ENST00000645242.1:c.1247A>G	ENSP00000494690.1:p.Gln416Arg
ENST00000259089.8:c.1460A>G	ENSP00000259089.4:p.Gln487Arg
ENST00000526097.1:n.1400A>G
ENST00000529894.1:c.1247A>G	ENSP00000433663.1:p.Gln416Arg
NM_001715.2:c.1460A>G	NP_001706.2:p.Gln487Arg
XM_011543824.1:c.1538A>G	XP_011542126.1:p.Gln513Arg
XM_011543825.1:c.1538A>G	XP_011542127.1:p.Gln513Arg
XM_011543826.1:c.1538A>G	XP_011542128.1:p.Gln513Arg
XM_011543827.1:c.1325A>G	XP_011542129.1:p.Gln442Arg
NM_001330465.1:c.1247A>G	NP_001317394.1:p.Gln416Arg
XM_011543825.3:c.1538A>G	XP_011542127.1:p.Gln513Arg
NM_001715.3:c.1460A>G MANE Select	NP_001706.2:p.Gln487Arg
NM_001330465.2:c.1247A>G	NP_001317394.1:p.Gln416Arg