Canonical Allele Identifier: CA1135845512

Gene: BTK

Linked Data

• dbSNP Id: rs1926591272
• gnomAD v3: X-101359391-A-C
• gnomAD v4: X-101359391-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359391A>C , CM000685.2:g.101359391A>C	GRCh38
NC_000023.10:g.100614379A>C , CM000685.1:g.100614379A>C	GRCh37
NC_000023.9:g.100501035A>C	NCBI36
NG_009616.1:g.31834T>G , LRG_128:g.31834T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.620-44T>G
ENST00000478995.2:n.1000-44T>G
ENST00000488970.2:n.998-44T>G
ENST00000695614.1:c.840-44T>G	ENSP00000512053.1:n.840-44T>G
ENST00000695615.1:c.840-44T>G	ENSP00000512054.1:n.840-44T>G
ENST00000695616.1:c.*685-44T>G	ENSP00000512055.1:n.*685-44T>G
ENST00000695617.1:c.837-44T>G	ENSP00000512056.1:n.837-44T>G
ENST00000695618.1:c.*589-44T>G	ENSP00000512058.1:n.*589-44T>G
ENST00000695619.1:c.*684+697T>G	ENSP00000512059.1:n.*684+697T>G
ENST00000695620.1:c.*685-44T>G	ENSP00000512060.1:n.*685-44T>G
ENST00000695621.1:c.840-44T>G	ENSP00000512061.1:n.840-44T>G
ENST00000695622.1:c.777-44T>G	ENSP00000512062.1:n.777-44T>G
ENST00000695623.1:c.834-44T>G	ENSP00000512063.1:n.834-44T>G
ENST00000695624.1:n.145-44T>G
ENST00000695625.1:c.840-44T>G	ENSP00000512064.1:n.840-44T>G
ENST00000703407.1:c.840-44T>G	ENSP00000512057.1:n.840-44T>G
ENST00000308731.8:c.840-44T>G MANE Select	ENSP00000308176.8:n.840-44T>G
ENST00000308731.7:c.840-44T>G	ENSP00000308176.7:n.840-44T>G
ENST00000372880.5:c.840-44T>G	ENSP00000361971.1:n.840-44T>G
ENST00000618050.4:c.840-44T>G	ENSP00000479125.1:n.840-44T>G
ENST00000621635.4:c.942-44T>G	ENSP00000483570.1:n.942-44T>G
NM_000061.2:c.840-44T>G , LRG_128t1:c.840-44T>G	NP_000052.1:n.840-44T>G
NM_001287344.1:c.942-44T>G	NP_001274273.1:n.942-44T>G
NM_001287345.1:c.840-44T>G	NP_001274274.1:n.840-44T>G
NM_000061.3:c.840-44T>G MANE Select	NP_000052.1:n.840-44T>G
NM_001287344.2:c.942-44T>G	NP_001274273.1:n.942-44T>G
NM_001287345.2:c.840-44T>G	NP_001274274.1:n.840-44T>G