Canonical Allele Identifier: CA643066361

Gene: BTK

Linked Data

• dbSNP Id: rs1555978287
• gnomAD v2: X-100614342-A-G
• gnomAD v4: X-101359354-A-G
• MyVariant Identifiers: chrX:g.100614342A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359354A>G , CM000685.2:g.101359354A>G	GRCh38
NC_000023.10:g.100614342A>G , CM000685.1:g.100614342A>G	GRCh37
NC_000023.9:g.100500998A>G	NCBI36
NG_009616.1:g.31871T>C , LRG_128:g.31871T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.620-7T>C
ENST00000478995.2:n.1000-7T>C
ENST00000488970.2:n.998-7T>C
ENST00000695614.1:c.840-7T>C	ENSP00000512053.1:n.840-7T>C
ENST00000695615.1:c.840-7T>C	ENSP00000512054.1:n.840-7T>C
ENST00000695616.1:c.*685-7T>C	ENSP00000512055.1:n.*685-7T>C
ENST00000695617.1:c.837-7T>C	ENSP00000512056.1:n.837-7T>C
ENST00000695618.1:c.*589-7T>C	ENSP00000512058.1:n.*589-7T>C
ENST00000695619.1:c.*684+734T>C	ENSP00000512059.1:n.*684+734T>C
ENST00000695620.1:c.*685-7T>C	ENSP00000512060.1:n.*685-7T>C
ENST00000695621.1:c.840-7T>C	ENSP00000512061.1:n.840-7T>C
ENST00000695622.1:c.777-7T>C	ENSP00000512062.1:n.777-7T>C
ENST00000695623.1:c.834-7T>C	ENSP00000512063.1:n.834-7T>C
ENST00000695624.1:n.145-7T>C
ENST00000695625.1:c.840-7T>C	ENSP00000512064.1:n.840-7T>C
ENST00000703407.1:c.840-7T>C	ENSP00000512057.1:n.840-7T>C
ENST00000308731.8:c.840-7T>C MANE Select	ENSP00000308176.8:n.840-7T>C
ENST00000308731.7:c.840-7T>C	ENSP00000308176.7:n.840-7T>C
ENST00000372880.5:c.840-7T>C	ENSP00000361971.1:n.840-7T>C
ENST00000618050.4:c.840-7T>C	ENSP00000479125.1:n.840-7T>C
ENST00000621635.4:c.942-7T>C	ENSP00000483570.1:n.942-7T>C
NM_000061.2:c.840-7T>C , LRG_128t1:c.840-7T>C	NP_000052.1:n.840-7T>C
NM_001287344.1:c.942-7T>C	NP_001274273.1:n.942-7T>C
NM_001287345.1:c.840-7T>C	NP_001274274.1:n.840-7T>C
NM_000061.3:c.840-7T>C MANE Select	NP_000052.1:n.840-7T>C
NM_001287344.2:c.942-7T>C	NP_001274273.1:n.942-7T>C
NM_001287345.2:c.840-7T>C	NP_001274274.1:n.840-7T>C