Canonical Allele Identifier: CA10605896

Gene: BTK

Linked Data

• ClinVar Variation Id: 287857
• ClinVar RCV Id: RCV000290503 ; RCV002518002
• dbSNP Id: rs886044875
• gnomAD v4: X-101359286-C-T
• MyVariant Identifiers: chrX:g.100614274C>T (hg19) ; chrX:g.101359286C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359286C>T , CM000685.2:g.101359286C>T	GRCh38
NC_000023.10:g.100614274C>T , CM000685.1:g.100614274C>T	GRCh37
NC_000023.9:g.100500930C>T	NCBI36
NG_009616.1:g.31939G>A , LRG_128:g.31939G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.674+7G>A
ENST00000478995.2:n.1054+7G>A
ENST00000488970.2:n.1052+7G>A
ENST00000695614.1:c.894+7G>A	ENSP00000512053.1:n.894+7G>A
ENST00000695615.1:c.894+7G>A	ENSP00000512054.1:n.894+7G>A
ENST00000695616.1:c.*739+7G>A	ENSP00000512055.1:n.*739+7G>A
ENST00000695617.1:c.891+7G>A	ENSP00000512056.1:n.891+7G>A
ENST00000695618.1:c.*643+7G>A	ENSP00000512058.1:n.*643+7G>A
ENST00000695619.1:c.*684+802G>A	ENSP00000512059.1:n.*684+802G>A
ENST00000695620.1:c.*739+7G>A	ENSP00000512060.1:n.*739+7G>A
ENST00000695621.1:c.894+7G>A	ENSP00000512061.1:n.894+7G>A
ENST00000695622.1:c.831+7G>A	ENSP00000512062.1:n.831+7G>A
ENST00000695623.1:c.888+7G>A	ENSP00000512063.1:n.888+7G>A
ENST00000695624.1:n.199+7G>A
ENST00000695625.1:c.894+7G>A	ENSP00000512064.1:n.894+7G>A
ENST00000703407.1:c.894+7G>A	ENSP00000512057.1:n.894+7G>A
ENST00000308731.8:c.894+7G>A MANE Select	ENSP00000308176.8:n.894+7G>A
ENST00000308731.7:c.894+7G>A	ENSP00000308176.7:n.894+7G>A
ENST00000372880.5:c.894+7G>A	ENSP00000361971.1:n.894+7G>A
ENST00000618050.4:c.894+7G>A	ENSP00000479125.1:n.894+7G>A
ENST00000621635.4:c.996+7G>A	ENSP00000483570.1:n.996+7G>A
NM_000061.2:c.894+7G>A , LRG_128t1:c.894+7G>A	NP_000052.1:n.894+7G>A
NM_001287344.1:c.996+7G>A	NP_001274273.1:n.996+7G>A
NM_001287345.1:c.894+7G>A	NP_001274274.1:n.894+7G>A
NM_000061.3:c.894+7G>A MANE Select	NP_000052.1:n.894+7G>A
NM_001287344.2:c.996+7G>A	NP_001274273.1:n.996+7G>A
NM_001287345.2:c.894+7G>A	NP_001274274.1:n.894+7G>A