Canonical Allele Identifier: CA4630513

Gene: BLK

Linked Data

• dbSNP Id: rs767202084
• ExAC: 8:11421495 C / T
• gnomAD v2: 8-11421495-C-T
• gnomAD v4: 8-11563986-C-T
• MyVariant Identifiers: chr8:g.11421495C>T (hg19) ; chr8:g.11563986C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563986C>T , CM000670.2:g.11563986C>T	GRCh38
NC_000008.10:g.11421495C>T , CM000670.1:g.11421495C>T	GRCh37
NC_000008.9:g.11458904C>T	NCBI36
NG_023543.1:g.74975C>T
NG_023543.2:g.74975C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1504C>T
ENST00000696154.1:c.*714C>T	ENSP00000512445.1:n.*714C>T
ENST00000696155.1:n.280C>T
ENST00000259089.9:c.1396C>T MANE Select	ENSP00000259089.4:p.Arg466Cys
ENST00000645242.1:c.1183C>T	ENSP00000494690.1:p.Arg395Cys
ENST00000259089.8:c.1396C>T	ENSP00000259089.4:p.Arg466Cys
ENST00000526097.1:n.1336C>T
ENST00000529894.1:c.1183C>T	ENSP00000433663.1:p.Arg395Cys
NM_001715.2:c.1396C>T	NP_001706.2:p.Arg466Cys
XM_011543824.1:c.1474C>T	XP_011542126.1:p.Arg492Cys
XM_011543825.1:c.1474C>T	XP_011542127.1:p.Arg492Cys
XM_011543826.1:c.1474C>T	XP_011542128.1:p.Arg492Cys
XM_011543827.1:c.1261C>T	XP_011542129.1:p.Arg421Cys
NM_001330465.1:c.1183C>T	NP_001317394.1:p.Arg395Cys
XM_011543825.3:c.1474C>T	XP_011542127.1:p.Arg492Cys
NM_001715.3:c.1396C>T MANE Select	NP_001706.2:p.Arg466Cys
NM_001330465.2:c.1183C>T	NP_001317394.1:p.Arg395Cys