Canonical Allele Identifier: CA370317109

Gene: BLK

Linked Data

• gnomAD v4: 8-11564090-G-C
• MyVariant Identifiers: chr8:g.11421599G>C (hg19) ; chr8:g.11564090G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564090G>C , CM000670.2:g.11564090G>C	GRCh38
NC_000008.10:g.11421599G>C , CM000670.1:g.11421599G>C	GRCh37
NC_000008.9:g.11459008G>C	NCBI36
NG_023543.1:g.75079G>C
NG_023543.2:g.75079G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1608G>C
ENST00000696154.1:c.*818G>C	ENSP00000512445.1:n.*818G>C
ENST00000696155.1:n.384G>C
ENST00000259089.9:c.1500G>C MANE Select	ENSP00000259089.4:p.Gln500His
ENST00000645242.1:c.1287G>C	ENSP00000494690.1:p.Gln429His
ENST00000259089.8:c.1500G>C	ENSP00000259089.4:p.Gln500His
ENST00000526097.1:n.1440G>C
ENST00000529894.1:c.1287G>C	ENSP00000433663.1:p.Gln429His
NM_001715.2:c.1500G>C	NP_001706.2:p.Gln500His
XM_011543824.1:c.1578G>C	XP_011542126.1:p.Gln526His
XM_011543825.1:c.1578G>C	XP_011542127.1:p.Gln526His
XM_011543826.1:c.1578G>C	XP_011542128.1:p.Gln526His
XM_011543827.1:c.1365G>C	XP_011542129.1:p.Gln455His
NM_001330465.1:c.1287G>C	NP_001317394.1:p.Gln429His
XM_011543825.3:c.1578G>C	XP_011542127.1:p.Gln526His
NM_001715.3:c.1500G>C MANE Select	NP_001706.2:p.Gln500His
NM_001330465.2:c.1287G>C	NP_001317394.1:p.Gln429His