Canonical Allele Identifier: CA4630561

Gene: BLK

Linked Data

• dbSNP Id: rs768259020
• ExAC: 8:11421971 T / C
• gnomAD v2: 8-11421971-T-C
• gnomAD v3: 8-11564462-T-C
• gnomAD v4: 8-11564462-T-C
• MyVariant Identifiers: chr8:g.11421971T>C (hg19) ; chr8:g.11564462T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11564462T>C , CM000670.2:g.11564462T>C	GRCh38
NC_000008.10:g.11421971T>C , CM000670.1:g.11421971T>C	GRCh37
NC_000008.9:g.11459380T>C	NCBI36
NG_023543.1:g.75451T>C
NG_023543.2:g.75451T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1980T>C
ENST00000696154.1:c.*1190T>C	ENSP00000512445.1:n.*1190T>C
ENST00000259089.9:c.*354T>C MANE Select	ENSP00000259089.4:n.*354T>C
ENST00000645242.1:c.*354T>C	ENSP00000494690.1:n.*354T>C
ENST00000259089.8:c.*354T>C	ENSP00000259089.4:n.*354T>C
ENST00000526097.1:n.1812T>C
ENST00000529894.1:c.*354T>C	ENSP00000433663.1:n.*354T>C
NM_001715.2:c.*354T>C	NP_001706.2:n.*354T>C
XM_011543824.1:c.*354T>C	XP_011542126.1:n.*354T>C
XM_011543825.1:c.*354T>C	XP_011542127.1:n.*354T>C
XM_011543826.1:c.*354T>C	XP_011542128.1:n.*354T>C
XM_011543827.1:c.*354T>C	XP_011542129.1:n.*354T>C
NM_001330465.1:c.*354T>C	NP_001317394.1:n.*354T>C
XM_011543825.3:c.*354T>C	XP_011542127.1:n.*354T>C
NM_001715.3:c.*354T>C MANE Select	NP_001706.2:n.*354T>C
NM_001330465.2:c.*354T>C	NP_001317394.1:n.*354T>C