Canonical Allele Identifier: CA4630507

Gene: BLK

Linked Data

• dbSNP Id: rs1224467938
• ExAC: 8:11421482 G / A
• gnomAD v2: 8-11421482-G-A
• gnomAD v4: 8-11563973-G-A
• MyVariant Identifiers: chr8:g.11421482G>A (hg19) ; chr8:g.11421482_11421484delinsACC (hg19) ; chr8:g.11563973_11563975delinsACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563973G>A , CM000670.2:g.11563973G>A	GRCh38
NC_000008.10:g.11421482G>A , CM000670.1:g.11421482G>A	GRCh37
NC_000008.9:g.11458891G>A	NCBI36
NG_023543.1:g.74962G>A
NG_023543.2:g.74962G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1491G>A
ENST00000696154.1:c.*701G>A	ENSP00000512445.1:n.*701G>A
ENST00000696155.1:n.267G>A
ENST00000259089.9:c.1383G>A MANE Select	ENSP00000259089.4:p.Pro461=
ENST00000645242.1:c.1170G>A	ENSP00000494690.1:p.Pro390=
ENST00000259089.8:c.1383G>A	ENSP00000259089.4:p.Pro461=
ENST00000526097.1:n.1323G>A
ENST00000529894.1:c.1170G>A	ENSP00000433663.1:p.Pro390=
NM_001715.2:c.1383G>A	NP_001706.2:p.Pro461=
XM_011543824.1:c.1461G>A	XP_011542126.1:p.Pro487=
XM_011543825.1:c.1461G>A	XP_011542127.1:p.Pro487=
XM_011543826.1:c.1461G>A	XP_011542128.1:p.Pro487=
XM_011543827.1:c.1248G>A	XP_011542129.1:p.Pro416=
NM_001330465.1:c.1170G>A	NP_001317394.1:p.Pro390=
XM_011543825.3:c.1461G>A	XP_011542127.1:p.Pro487=
NM_001715.3:c.1383G>A MANE Select	NP_001706.2:p.Pro461=
NM_001330465.2:c.1170G>A	NP_001317394.1:p.Pro390=