Canonical Allele Identifier: CA4630504

Gene: BLK

Linked Data

• ClinVar Variation Id: 912038
• ClinVar RCV Id: RCV001164967
• dbSNP Id: rs376977643
• ExAC: 8:11421473 C / T
• gnomAD v2: 8-11421473-C-T
• gnomAD v3: 8-11563964-C-T
• gnomAD v4: 8-11563964-C-T
• MyVariant Identifiers: chr8:g.11421473C>T (hg19) ; chr8:g.11563964C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563964C>T , CM000670.2:g.11563964C>T	GRCh38
NC_000008.10:g.11421473C>T , CM000670.1:g.11421473C>T	GRCh37
NC_000008.9:g.11458882C>T	NCBI36
NG_023543.1:g.74953C>T
NG_023543.2:g.74953C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1482C>T
ENST00000696154.1:c.*692C>T	ENSP00000512445.1:n.*692C>T
ENST00000696155.1:n.258C>T
ENST00000259089.9:c.1374C>T MANE Select	ENSP00000259089.4:p.Asp458=
ENST00000645242.1:c.1161C>T	ENSP00000494690.1:p.Asp387=
ENST00000259089.8:c.1374C>T	ENSP00000259089.4:p.Asp458=
ENST00000526097.1:n.1314C>T
ENST00000529894.1:c.1161C>T	ENSP00000433663.1:p.Asp387=
NM_001715.2:c.1374C>T	NP_001706.2:p.Asp458=
XM_011543824.1:c.1452C>T	XP_011542126.1:p.Asp484=
XM_011543825.1:c.1452C>T	XP_011542127.1:p.Asp484=
XM_011543826.1:c.1452C>T	XP_011542128.1:p.Asp484=
XM_011543827.1:c.1239C>T	XP_011542129.1:p.Asp413=
NM_001330465.1:c.1161C>T	NP_001317394.1:p.Asp387=
XM_011543825.3:c.1452C>T	XP_011542127.1:p.Asp484=
NM_001715.3:c.1374C>T MANE Select	NP_001706.2:p.Asp458=
NM_001330465.2:c.1161C>T	NP_001317394.1:p.Asp387=