Canonical Allele Identifier: CA4629750

Gene: BLK

Linked Data

• ClinVar Variation Id: 361476
• ClinVar RCV Id: RCV000343718 ; RCV001584087 ; RCV002464191
• dbSNP Id: rs138972988
• ExAC: 8:11405552 G / A
• gnomAD v2: 8-11405552-G-A
• gnomAD v3: 8-11548043-G-A
• gnomAD v4: 8-11548043-G-A
• MyVariant Identifiers: chr8:g.11405552G>A (hg19) ; chr8:g.11548043G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11548043G>A , CM000670.2:g.11548043G>A	GRCh38
NC_000008.10:g.11405552G>A , CM000670.1:g.11405552G>A	GRCh37
NC_000008.9:g.11442961G>A	NCBI36
NG_023543.1:g.59032G>A
NG_023543.2:g.59032G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.338G>A
ENST00000696154.1:c.-27G>A	ENSP00000512445.1:n.-27G>A
ENST00000259089.9:c.187G>A MANE Select	ENSP00000259089.4:p.Val63Met
ENST00000645242.1:c.-27G>A	ENSP00000494690.1:n.-27G>A
ENST00000259089.8:c.187G>A	ENSP00000259089.4:p.Val63Met
ENST00000529894.1:c.-27G>A	ENSP00000433663.1:n.-27G>A
ENST00000533828.1:n.385G>A
NM_001715.2:c.187G>A	NP_001706.2:p.Val63Met
XM_011543824.1:c.187G>A	XP_011542126.1:p.Val63Met
XM_011543825.1:c.187G>A	XP_011542127.1:p.Val63Met
XM_011543826.1:c.187G>A	XP_011542128.1:p.Val63Met
XM_011543827.1:c.-27G>A	XP_011542129.1:n.-27G>A
XM_011543828.1:c.187G>A	XP_011542130.1:p.Val63Met
XM_011543829.1:c.187G>A	XP_011542131.1:p.Val63Met
NM_001330465.1:c.-27G>A	NP_001317394.1:n.-27G>A
XM_011543825.3:c.187G>A	XP_011542127.1:p.Val63Met
XM_011543828.3:c.187G>A	XP_011542130.1:p.Val63Met
XM_011543829.3:c.187G>A	XP_011542131.1:p.Val63Met
NM_001715.3:c.187G>A MANE Select	NP_001706.2:p.Val63Met
NM_001330465.2:c.-27G>A	NP_001317394.1:n.-27G>A