Canonical Allele Identifier: CA459320846

Gene: BLK

Linked Data

• gnomAD v4: 8-11564012-C-G
• MyVariant Identifiers: chr8:g.11421521C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564012C>G , CM000670.2:g.11564012C>G	GRCh38
NC_000008.10:g.11421521C>G , CM000670.1:g.11421521C>G	GRCh37
NC_000008.9:g.11458930C>G	NCBI36
NG_023543.1:g.75001C>G
NG_023543.2:g.75001C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1530C>G
ENST00000696154.1:c.*740C>G	ENSP00000512445.1:n.*740C>G
ENST00000696155.1:n.306C>G
ENST00000259089.9:c.1422C>G MANE Select	ENSP00000259089.4:p.Arg474=
ENST00000645242.1:c.1209C>G	ENSP00000494690.1:p.Arg403=
ENST00000259089.8:c.1422C>G	ENSP00000259089.4:p.Arg474=
ENST00000526097.1:n.1362C>G
ENST00000529894.1:c.1209C>G	ENSP00000433663.1:p.Arg403=
NM_001715.2:c.1422C>G	NP_001706.2:p.Arg474=
XM_011543824.1:c.1500C>G	XP_011542126.1:p.Arg500=
XM_011543825.1:c.1500C>G	XP_011542127.1:p.Arg500=
XM_011543826.1:c.1500C>G	XP_011542128.1:p.Arg500=
XM_011543827.1:c.1287C>G	XP_011542129.1:p.Arg429=
NM_001330465.1:c.1209C>G	NP_001317394.1:p.Arg403=
XM_011543825.3:c.1500C>G	XP_011542127.1:p.Arg500=
NM_001715.3:c.1422C>G MANE Select	NP_001706.2:p.Arg474=
NM_001330465.2:c.1209C>G	NP_001317394.1:p.Arg403=