Canonical Allele Identifier: CA10629931

Gene: BLK

Linked Data

• ClinVar Variation Id: 361461
• ClinVar RCV Id: RCV000346097 ; RCV003437130
• dbSNP Id: rs142686759
• gnomAD v2: 8-11351661-C-A
• gnomAD v3: 8-11494152-C-A
• gnomAD v4: 8-11494152-C-A
• MyVariant Identifiers: chr8:g.11351661C>A (hg19) ; chr8:g.11494152C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11494152C>A , CM000670.2:g.11494152C>A	GRCh38
NC_000008.10:g.11351661C>A , CM000670.1:g.11351661C>A	GRCh37
NC_000008.9:g.11389070C>A	NCBI36
NG_023543.1:g.5141C>A
NG_023543.2:g.5141C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.274+6985C>A
ENST00000696154.1:c.-91+6985C>A	ENSP00000512445.1:n.-91+6985C>A
ENST00000645242.1:c.-91+6985C>A	ENSP00000494690.1:n.-91+6985C>A
ENST00000259089.8:c.-441C>A	ENSP00000259089.4:n.-441C>A
NM_001715.2:c.-441C>A	NP_001706.2:n.-441C>A
XM_011543824.1:c.-441C>A	XP_011542126.1:n.-441C>A
XM_011543827.1:c.-530C>A	XP_011542129.1:n.-530C>A
XM_011543828.1:c.-441C>A	XP_011542130.1:n.-441C>A
XM_011543829.1:c.-441C>A	XP_011542131.1:n.-441C>A
NM_001330465.1:c.-530C>A	NP_001317394.1:n.-530C>A
XM_011543828.3:c.-441C>A	XP_011542130.1:n.-441C>A
XM_011543829.3:c.-441C>A	XP_011542131.1:n.-441C>A