Canonical Allele Identifier: CA4630515

Gene: BLK

Linked Data

• ClinVar Variation Id: 2715555
• ClinVar RCV Id: RCV003553384
• dbSNP Id: rs772111389
• ExAC: 8:11421507 G / A
• gnomAD v2: 8-11421507-G-A
• gnomAD v3: 8-11563998-G-A
• gnomAD v4: 8-11563998-G-A
• MyVariant Identifiers: chr8:g.11421507G>A (hg19) ; chr8:g.11563998G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563998G>A , CM000670.2:g.11563998G>A	GRCh38
NC_000008.10:g.11421507G>A , CM000670.1:g.11421507G>A	GRCh37
NC_000008.9:g.11458916G>A	NCBI36
NG_023543.1:g.74987G>A
NG_023543.2:g.74987G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1516G>A
ENST00000696154.1:c.*726G>A	ENSP00000512445.1:n.*726G>A
ENST00000696155.1:n.292G>A
ENST00000259089.9:c.1408G>A MANE Select	ENSP00000259089.4:p.Ala470Thr
ENST00000645242.1:c.1195G>A	ENSP00000494690.1:p.Ala399Thr
ENST00000259089.8:c.1408G>A	ENSP00000259089.4:p.Ala470Thr
ENST00000526097.1:n.1348G>A
ENST00000529894.1:c.1195G>A	ENSP00000433663.1:p.Ala399Thr
NM_001715.2:c.1408G>A	NP_001706.2:p.Ala470Thr
XM_011543824.1:c.1486G>A	XP_011542126.1:p.Ala496Thr
XM_011543825.1:c.1486G>A	XP_011542127.1:p.Ala496Thr
XM_011543826.1:c.1486G>A	XP_011542128.1:p.Ala496Thr
XM_011543827.1:c.1273G>A	XP_011542129.1:p.Ala425Thr
NM_001330465.1:c.1195G>A	NP_001317394.1:p.Ala399Thr
XM_011543825.3:c.1486G>A	XP_011542127.1:p.Ala496Thr
NM_001715.3:c.1408G>A MANE Select	NP_001706.2:p.Ala470Thr
NM_001330465.2:c.1195G>A	NP_001317394.1:p.Ala399Thr