Canonical Allele Identifier: CA4630525

Gene: BLK

Linked Data

• ClinVar Variation Id: 2427877
• ClinVar RCV Id: RCV003116848
• dbSNP Id: rs751027194
• ExAC: 8:11421551 G / C
• gnomAD v2: 8-11421551-G-C
• gnomAD v3: 8-11564042-G-C
• gnomAD v4: 8-11564042-G-C
• MyVariant Identifiers: chr8:g.11421551G>C (hg19) ; chr8:g.11564042G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564042G>C , CM000670.2:g.11564042G>C	GRCh38
NC_000008.10:g.11421551G>C , CM000670.1:g.11421551G>C	GRCh37
NC_000008.9:g.11458960G>C	NCBI36
NG_023543.1:g.75031G>C
NG_023543.2:g.75031G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1560G>C
ENST00000696154.1:c.*770G>C	ENSP00000512445.1:n.*770G>C
ENST00000696155.1:n.336G>C
ENST00000259089.9:c.1452G>C MANE Select	ENSP00000259089.4:p.Glu484Asp
ENST00000645242.1:c.1239G>C	ENSP00000494690.1:p.Glu413Asp
ENST00000259089.8:c.1452G>C	ENSP00000259089.4:p.Glu484Asp
ENST00000526097.1:n.1392G>C
ENST00000529894.1:c.1239G>C	ENSP00000433663.1:p.Glu413Asp
NM_001715.2:c.1452G>C	NP_001706.2:p.Glu484Asp
XM_011543824.1:c.1530G>C	XP_011542126.1:p.Glu510Asp
XM_011543825.1:c.1530G>C	XP_011542127.1:p.Glu510Asp
XM_011543826.1:c.1530G>C	XP_011542128.1:p.Glu510Asp
XM_011543827.1:c.1317G>C	XP_011542129.1:p.Glu439Asp
NM_001330465.1:c.1239G>C	NP_001317394.1:p.Glu413Asp
XM_011543825.3:c.1530G>C	XP_011542127.1:p.Glu510Asp
NM_001715.3:c.1452G>C MANE Select	NP_001706.2:p.Glu484Asp
NM_001330465.2:c.1239G>C	NP_001317394.1:p.Glu413Asp