Canonical Allele Identifier: CA579799612

Gene: BLK

Linked Data

• dbSNP Id: rs1482003669
• gnomAD v2: 8-11422071-C-G
• gnomAD v4: 8-11564562-C-G
• MyVariant Identifiers: chr8:g.11422071C>G (hg19) ; chr8:g.11564562C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564562C>G , CM000670.2:g.11564562C>G	GRCh38
NC_000008.10:g.11422071C>G , CM000670.1:g.11422071C>G	GRCh37
NC_000008.9:g.11459480C>G	NCBI36
NG_023543.1:g.75551C>G
NG_023543.2:g.75551C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.2080C>G
ENST00000696154.1:c.*1290C>G	ENSP00000512445.1:n.*1290C>G
ENST00000259089.9:c.*454C>G MANE Select	ENSP00000259089.4:n.*454C>G
ENST00000645242.1:c.*454C>G	ENSP00000494690.1:n.*454C>G
ENST00000259089.8:c.*454C>G	ENSP00000259089.4:n.*454C>G
ENST00000526097.1:n.1912C>G
NM_001715.2:c.*454C>G	NP_001706.2:n.*454C>G
XM_011543824.1:c.*454C>G	XP_011542126.1:n.*454C>G
XM_011543825.1:c.*454C>G	XP_011542127.1:n.*454C>G
XM_011543826.1:c.*454C>G	XP_011542128.1:n.*454C>G
XM_011543827.1:c.*454C>G	XP_011542129.1:n.*454C>G
NM_001330465.1:c.*454C>G	NP_001317394.1:n.*454C>G
XM_011543825.3:c.*454C>G	XP_011542127.1:n.*454C>G
NM_001715.3:c.*454C>G MANE Select	NP_001706.2:n.*454C>G
NM_001330465.2:c.*454C>G	NP_001317394.1:n.*454C>G