Canonical Allele Identifier: CA370316698

Gene: BLK

Linked Data

• gnomAD v4: 8-11563960-C-A
• MyVariant Identifiers: chr8:g.11421469C>A (hg19) ; chr8:g.11563960C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563960C>A , CM000670.2:g.11563960C>A	GRCh38
NC_000008.10:g.11421469C>A , CM000670.1:g.11421469C>A	GRCh37
NC_000008.9:g.11458878C>A	NCBI36
NG_023543.1:g.74949C>A
NG_023543.2:g.74949C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1478C>A
ENST00000696154.1:c.*688C>A	ENSP00000512445.1:n.*688C>A
ENST00000696155.1:n.254C>A
ENST00000259089.9:c.1370C>A MANE Select	ENSP00000259089.4:p.Pro457His
ENST00000645242.1:c.1157C>A	ENSP00000494690.1:p.Pro386His
ENST00000259089.8:c.1370C>A	ENSP00000259089.4:p.Pro457His
ENST00000526097.1:n.1310C>A
ENST00000529894.1:c.1157C>A	ENSP00000433663.1:p.Pro386His
NM_001715.2:c.1370C>A	NP_001706.2:p.Pro457His
XM_011543824.1:c.1448C>A	XP_011542126.1:p.Pro483His
XM_011543825.1:c.1448C>A	XP_011542127.1:p.Pro483His
XM_011543826.1:c.1448C>A	XP_011542128.1:p.Pro483His
XM_011543827.1:c.1235C>A	XP_011542129.1:p.Pro412His
NM_001330465.1:c.1157C>A	NP_001317394.1:p.Pro386His
XM_011543825.3:c.1448C>A	XP_011542127.1:p.Pro483His
NM_001715.3:c.1370C>A MANE Select	NP_001706.2:p.Pro457His
NM_001330465.2:c.1157C>A	NP_001317394.1:p.Pro386His