Canonical Allele Identifier: CA172095753

Gene: BLK

Linked Data

• ClinVar Variation Id: 909970
• ClinVar RCV Id: RCV001161457
• dbSNP Id: rs1045306871
• gnomAD v2: 8-11421846-G-C
• gnomAD v3: 8-11564337-G-C
• gnomAD v4: 8-11564337-G-C
• MyVariant Identifiers: chr8:g.11421846G>C (hg19) ; chr8:g.11564337G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564337G>C , CM000670.2:g.11564337G>C	GRCh38
NC_000008.10:g.11421846G>C , CM000670.1:g.11421846G>C	GRCh37
NC_000008.9:g.11459255G>C	NCBI36
NG_023543.1:g.75326G>C
NG_023543.2:g.75326G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1855G>C
ENST00000696154.1:c.*1065G>C	ENSP00000512445.1:n.*1065G>C
ENST00000259089.9:c.*229G>C MANE Select	ENSP00000259089.4:n.*229G>C
ENST00000645242.1:c.*229G>C	ENSP00000494690.1:n.*229G>C
ENST00000259089.8:c.*229G>C	ENSP00000259089.4:n.*229G>C
ENST00000526097.1:n.1687G>C
ENST00000529894.1:c.*229G>C	ENSP00000433663.1:n.*229G>C
NM_001715.2:c.*229G>C	NP_001706.2:n.*229G>C
XM_011543824.1:c.*229G>C	XP_011542126.1:n.*229G>C
XM_011543825.1:c.*229G>C	XP_011542127.1:n.*229G>C
XM_011543826.1:c.*229G>C	XP_011542128.1:n.*229G>C
XM_011543827.1:c.*229G>C	XP_011542129.1:n.*229G>C
NM_001330465.1:c.*229G>C	NP_001317394.1:n.*229G>C
XM_011543825.3:c.*229G>C	XP_011542127.1:n.*229G>C
NM_001715.3:c.*229G>C MANE Select	NP_001706.2:n.*229G>C
NM_001330465.2:c.*229G>C	NP_001317394.1:n.*229G>C