Canonical Allele Identifier: CA2694292396

Gene: BTK

Linked Data

• dbSNP Id: rs2147430822
• gnomAD v4: X-101359214-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359214T>A , CM000685.2:g.101359214T>A	GRCh38
NC_000023.10:g.100614202T>A , CM000685.1:g.100614202T>A	GRCh37
NC_000023.9:g.100500858T>A	NCBI36
NG_009616.1:g.32011A>T , LRG_128:g.32011A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.674+79A>T
ENST00000478995.2:n.1054+79A>T
ENST00000488970.2:n.1052+79A>T
ENST00000695614.1:c.894+79A>T	ENSP00000512053.1:n.894+79A>T
ENST00000695615.1:c.894+79A>T	ENSP00000512054.1:n.894+79A>T
ENST00000695616.1:c.*739+79A>T	ENSP00000512055.1:n.*739+79A>T
ENST00000695617.1:c.891+79A>T	ENSP00000512056.1:n.891+79A>T
ENST00000695618.1:c.*643+79A>T	ENSP00000512058.1:n.*643+79A>T
ENST00000695619.1:c.*685-777A>T	ENSP00000512059.1:n.*685-777A>T
ENST00000695620.1:c.*739+79A>T	ENSP00000512060.1:n.*739+79A>T
ENST00000695621.1:c.894+79A>T	ENSP00000512061.1:n.894+79A>T
ENST00000695622.1:c.831+79A>T	ENSP00000512062.1:n.831+79A>T
ENST00000695623.1:c.888+79A>T	ENSP00000512063.1:n.888+79A>T
ENST00000695624.1:n.199+79A>T
ENST00000695625.1:c.894+79A>T	ENSP00000512064.1:n.894+79A>T
ENST00000703407.1:c.894+79A>T	ENSP00000512057.1:n.894+79A>T
ENST00000308731.8:c.894+79A>T MANE Select	ENSP00000308176.8:n.894+79A>T
ENST00000308731.7:c.894+79A>T	ENSP00000308176.7:n.894+79A>T
ENST00000372880.5:c.894+79A>T	ENSP00000361971.1:n.894+79A>T
ENST00000618050.4:c.894+79A>T	ENSP00000479125.1:n.894+79A>T
ENST00000621635.4:c.996+79A>T	ENSP00000483570.1:n.996+79A>T
NM_000061.2:c.894+79A>T , LRG_128t1:c.894+79A>T	NP_000052.1:n.894+79A>T
NM_001287344.1:c.996+79A>T	NP_001274273.1:n.996+79A>T
NM_001287345.1:c.894+79A>T	NP_001274274.1:n.894+79A>T
NM_000061.3:c.894+79A>T MANE Select	NP_000052.1:n.894+79A>T
NM_001287344.2:c.996+79A>T	NP_001274273.1:n.996+79A>T
NM_001287345.2:c.894+79A>T	NP_001274274.1:n.894+79A>T