Canonical Allele Identifier: CA4630514

Gene: BLK

Linked Data

• dbSNP Id: rs748278828
• ExAC: 8:11421499 G / C
• gnomAD v2: 8-11421499-G-C
• gnomAD v4: 8-11563990-G-C
• MyVariant Identifiers: chr8:g.11421499G>C (hg19) ; chr8:g.11563990G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11563990G>C , CM000670.2:g.11563990G>C	GRCh38
NC_000008.10:g.11421499G>C , CM000670.1:g.11421499G>C	GRCh37
NC_000008.9:g.11458908G>C	NCBI36
NG_023543.1:g.74979G>C
NG_023543.2:g.74979G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696154.2:n.1508G>C
ENST00000696154.1:c.*718G>C	ENSP00000512445.1:n.*718G>C
ENST00000696155.1:n.284G>C
ENST00000259089.9:c.1400G>C MANE Select	ENSP00000259089.4:p.Gly467Ala
ENST00000645242.1:c.1187G>C	ENSP00000494690.1:p.Gly396Ala
ENST00000259089.8:c.1400G>C	ENSP00000259089.4:p.Gly467Ala
ENST00000526097.1:n.1340G>C
ENST00000529894.1:c.1187G>C	ENSP00000433663.1:p.Gly396Ala
NM_001715.2:c.1400G>C	NP_001706.2:p.Gly467Ala
XM_011543824.1:c.1478G>C	XP_011542126.1:p.Gly493Ala
XM_011543825.1:c.1478G>C	XP_011542127.1:p.Gly493Ala
XM_011543826.1:c.1478G>C	XP_011542128.1:p.Gly493Ala
XM_011543827.1:c.1265G>C	XP_011542129.1:p.Gly422Ala
NM_001330465.1:c.1187G>C	NP_001317394.1:p.Gly396Ala
XM_011543825.3:c.1478G>C	XP_011542127.1:p.Gly493Ala
NM_001715.3:c.1400G>C MANE Select	NP_001706.2:p.Gly467Ala
NM_001330465.2:c.1187G>C	NP_001317394.1:p.Gly396Ala