Canonical Allele Identifier: CA4629758

Gene: BLK

Linked Data

• dbSNP Id: rs538912310
• ExAC: 8:11405585 G / C
• gnomAD v2: 8-11405585-G-C
• gnomAD v3: 8-11548076-G-C
• gnomAD v4: 8-11548076-G-C
• MyVariant Identifiers: chr8:g.11405585G>C (hg19) ; chr8:g.11548076G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11548076G>C , CM000670.2:g.11548076G>C	GRCh38
NC_000008.10:g.11405585G>C , CM000670.1:g.11405585G>C	GRCh37
NC_000008.9:g.11442994G>C	NCBI36
NG_023543.1:g.59065G>C
NG_023543.2:g.59065G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.371G>C
ENST00000696154.1:c.7G>C	ENSP00000512445.1:p.Asp3His
ENST00000259089.9:c.220G>C MANE Select	ENSP00000259089.4:p.Asp74His
ENST00000645242.1:c.7G>C	ENSP00000494690.1:p.Asp3His
ENST00000259089.8:c.220G>C	ENSP00000259089.4:p.Asp74His
ENST00000529894.1:c.7G>C	ENSP00000433663.1:p.Asp3His
ENST00000533828.1:n.418G>C
NM_001715.2:c.220G>C	NP_001706.2:p.Asp74His
XM_011543824.1:c.220G>C	XP_011542126.1:p.Asp74His
XM_011543825.1:c.220G>C	XP_011542127.1:p.Asp74His
XM_011543826.1:c.220G>C	XP_011542128.1:p.Asp74His
XM_011543827.1:c.7G>C	XP_011542129.1:p.Asp3His
XM_011543828.1:c.220G>C	XP_011542130.1:p.Asp74His
XM_011543829.1:c.220G>C	XP_011542131.1:p.Asp74His
NM_001330465.1:c.7G>C	NP_001317394.1:p.Asp3His
XM_011543825.3:c.220G>C	XP_011542127.1:p.Asp74His
XM_011543828.3:c.220G>C	XP_011542130.1:p.Asp74His
XM_011543829.3:c.220G>C	XP_011542131.1:p.Asp74His
NM_001715.3:c.220G>C MANE Select	NP_001706.2:p.Asp74His
NM_001330465.2:c.7G>C	NP_001317394.1:p.Asp3His