Canonical Allele Identifier: CA10472965

Gene: BTK

Linked Data

• ClinVar Variation Id: 384101
• ClinVar RCV Id: RCV000437470
• dbSNP Id: rs781930404
• ExAC: X:100608267 T / C
• gnomAD v2: X-100608267-T-C
• gnomAD v4: X-101353279-T-C
• MyVariant Identifiers: chrX:g.100608267T>C (hg19) ; chrX:g.101353279T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101353279T>C , CM000685.2:g.101353279T>C	GRCh38
NC_000023.10:g.100608267T>C , CM000685.1:g.100608267T>C	GRCh37
NC_000023.9:g.100494923T>C	NCBI36
NG_009616.1:g.37946A>G , LRG_128:g.37946A>G
NG_011734.1:g.691A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3340A>G
ENST00000488970.2:n.3979A>G
ENST00000695614.1:c.1823A>G	ENSP00000512053.1:p.Glu608Gly
ENST00000695615.1:c.1823A>G	ENSP00000512054.1:p.Glu608Gly
ENST00000695616.1:c.*1668A>G	ENSP00000512055.1:n.*1668A>G
ENST00000695617.1:c.1820A>G	ENSP00000512056.1:p.Glu607Gly
ENST00000695618.1:c.*1572A>G	ENSP00000512058.1:n.*1572A>G
ENST00000695619.1:c.*1533A>G	ENSP00000512059.1:n.*1533A>G
ENST00000695620.1:c.*1749A>G	ENSP00000512060.1:n.*1749A>G
ENST00000695621.1:c.*248A>G	ENSP00000512061.1:n.*248A>G
ENST00000695622.1:c.1760A>G	ENSP00000512062.1:p.Glu587Gly
ENST00000695623.1:c.1817A>G	ENSP00000512063.1:p.Glu606Gly
ENST00000695624.1:n.1128A>G
ENST00000695625.1:c.1823A>G	ENSP00000512064.1:p.Glu608Gly
ENST00000695626.1:c.578A>G	ENSP00000512065.1:n.578A>G
ENST00000695627.1:c.771A>G	ENSP00000512066.1:n.771A>G
ENST00000695628.1:c.382A>G	ENSP00000512067.1:n.382A>G
ENST00000695629.1:c.263A>G	ENSP00000512068.1:p.Glu88Gly
ENST00000695630.1:c.550A>G
ENST00000695631.1:c.115-31A>G
ENST00000703407.1:c.1295A>G	ENSP00000512057.1:p.Glu432Gly
ENST00000308731.8:c.1823A>G MANE Select	ENSP00000308176.8:p.Glu608Gly
ENST00000308731.7:c.1823A>G	ENSP00000308176.7:p.Glu608Gly
ENST00000372880.5:c.1295A>G	ENSP00000361971.1:p.Glu432Gly
ENST00000470069.1:n.188A>G
ENST00000618050.4:c.1822A>G	ENSP00000479125.1:n.1822A>G
ENST00000621635.4:c.1925A>G	ENSP00000483570.1:p.Glu642Gly
NM_000061.2:c.1823A>G , LRG_128t1:c.1823A>G	NP_000052.1:p.Glu608Gly
NM_001287344.1:c.1925A>G	NP_001274273.1:p.Glu642Gly
NM_001287345.1:c.1295A>G	NP_001274274.1:p.Glu432Gly
NM_000061.3:c.1823A>G MANE Select	NP_000052.1:p.Glu608Gly
NM_001287344.2:c.1925A>G	NP_001274273.1:p.Glu642Gly
NM_001287345.2:c.1295A>G	NP_001274274.1:p.Glu432Gly