Canonical Allele Identifier: CA459320839

Gene: BLK

Linked Data

• gnomAD v4: 8-11563997-C-A
• MyVariant Identifiers: chr8:g.11421506C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563997C>A , CM000670.2:g.11563997C>A	GRCh38
NC_000008.10:g.11421506C>A , CM000670.1:g.11421506C>A	GRCh37
NC_000008.9:g.11458915C>A	NCBI36
NG_023543.1:g.74986C>A
NG_023543.2:g.74986C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1515C>A
ENST00000696154.1:c.*725C>A	ENSP00000512445.1:n.*725C>A
ENST00000696155.1:n.291C>A
ENST00000259089.9:c.1407C>A MANE Select	ENSP00000259089.4:p.Ile469=
ENST00000645242.1:c.1194C>A	ENSP00000494690.1:p.Ile398=
ENST00000259089.8:c.1407C>A	ENSP00000259089.4:p.Ile469=
ENST00000526097.1:n.1347C>A
ENST00000529894.1:c.1194C>A	ENSP00000433663.1:p.Ile398=
NM_001715.2:c.1407C>A	NP_001706.2:p.Ile469=
XM_011543824.1:c.1485C>A	XP_011542126.1:p.Ile495=
XM_011543825.1:c.1485C>A	XP_011542127.1:p.Ile495=
XM_011543826.1:c.1485C>A	XP_011542128.1:p.Ile495=
XM_011543827.1:c.1272C>A	XP_011542129.1:p.Ile424=
NM_001330465.1:c.1194C>A	NP_001317394.1:p.Ile398=
XM_011543825.3:c.1485C>A	XP_011542127.1:p.Ile495=
NM_001715.3:c.1407C>A MANE Select	NP_001706.2:p.Ile469=
NM_001330465.2:c.1194C>A	NP_001317394.1:p.Ile398=