Canonical Allele Identifier: CA10473093

Gene: BTK

Linked Data

• dbSNP Id: rs782350575
• ExAC: X:100614239 T / C
• gnomAD v2: X-100614239-T-C
• gnomAD v4: X-101359251-T-C
• MyVariant Identifiers: chrX:g.100614239T>C (hg19) ; chrX:g.101359251T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359251T>C , CM000685.2:g.101359251T>C	GRCh38
NC_000023.10:g.100614239T>C , CM000685.1:g.100614239T>C	GRCh37
NC_000023.9:g.100500895T>C	NCBI36
NG_009616.1:g.31974A>G , LRG_128:g.31974A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000464006.2:n.674+42A>G
ENST00000478995.2:n.1054+42A>G
ENST00000488970.2:n.1052+42A>G
ENST00000695614.1:c.894+42A>G	ENSP00000512053.1:n.894+42A>G
ENST00000695615.1:c.894+42A>G	ENSP00000512054.1:n.894+42A>G
ENST00000695616.1:c.*739+42A>G	ENSP00000512055.1:n.*739+42A>G
ENST00000695617.1:c.891+42A>G	ENSP00000512056.1:n.891+42A>G
ENST00000695618.1:c.*643+42A>G	ENSP00000512058.1:n.*643+42A>G
ENST00000695619.1:c.*685-814A>G	ENSP00000512059.1:n.*685-814A>G
ENST00000695620.1:c.*739+42A>G	ENSP00000512060.1:n.*739+42A>G
ENST00000695621.1:c.894+42A>G	ENSP00000512061.1:n.894+42A>G
ENST00000695622.1:c.831+42A>G	ENSP00000512062.1:n.831+42A>G
ENST00000695623.1:c.888+42A>G	ENSP00000512063.1:n.888+42A>G
ENST00000695624.1:n.199+42A>G
ENST00000695625.1:c.894+42A>G	ENSP00000512064.1:n.894+42A>G
ENST00000703407.1:c.894+42A>G	ENSP00000512057.1:n.894+42A>G
ENST00000308731.8:c.894+42A>G MANE Select	ENSP00000308176.8:n.894+42A>G
ENST00000308731.7:c.894+42A>G	ENSP00000308176.7:n.894+42A>G
ENST00000372880.5:c.894+42A>G	ENSP00000361971.1:n.894+42A>G
ENST00000618050.4:c.894+42A>G	ENSP00000479125.1:n.894+42A>G
ENST00000621635.4:c.996+42A>G	ENSP00000483570.1:n.996+42A>G
NM_000061.2:c.894+42A>G , LRG_128t1:c.894+42A>G	NP_000052.1:n.894+42A>G
NM_001287344.1:c.996+42A>G	NP_001274273.1:n.996+42A>G
NM_001287345.1:c.894+42A>G	NP_001274274.1:n.894+42A>G
NM_000061.3:c.894+42A>G MANE Select	NP_000052.1:n.894+42A>G
NM_001287344.2:c.996+42A>G	NP_001274273.1:n.996+42A>G
NM_001287345.2:c.894+42A>G	NP_001274274.1:n.894+42A>G