Canonical Allele Identifier: CA2448281901

Gene: BTK

Linked Data

• dbSNP Id: rs1926213568
• gnomAD v4: X-101349799-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101349799G>A , CM000685.2:g.101349799G>A	GRCh38
NC_000023.10:g.100604787G>A , CM000685.1:g.100604787G>A	GRCh37
NC_000023.9:g.100491443G>A	NCBI36
NG_009616.1:g.41426C>T , LRG_128:g.41426C>T
NG_011734.1:g.4171C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478995.2:n.3583C>T
ENST00000488970.2:n.4222C>T
ENST00000695614.1:c.*86C>T	ENSP00000512053.1:n.*86C>T
ENST00000695615.1:c.*86C>T	ENSP00000512054.1:n.*86C>T
ENST00000695616.1:c.*1911C>T	ENSP00000512055.1:n.*1911C>T
ENST00000695617.1:c.*86C>T	ENSP00000512056.1:n.*86C>T
ENST00000695618.1:c.*1815C>T	ENSP00000512058.1:n.*1815C>T
ENST00000695619.1:c.*1776C>T	ENSP00000512059.1:n.*1776C>T
ENST00000695620.1:c.*1992C>T	ENSP00000512060.1:n.*1992C>T
ENST00000695621.1:c.*491C>T	ENSP00000512061.1:n.*491C>T
ENST00000695622.1:c.*86C>T	ENSP00000512062.1:n.*86C>T
ENST00000695623.1:c.*86C>T	ENSP00000512063.1:n.*86C>T
ENST00000695624.1:n.1371C>T
ENST00000695625.1:c.*86C>T	ENSP00000512064.1:n.*86C>T
ENST00000703407.1:c.*86C>T	ENSP00000512057.1:n.*86C>T
ENST00000308731.8:c.*86C>T MANE Select	ENSP00000308176.8:n.*86C>T
ENST00000308731.7:c.*86C>T	ENSP00000308176.7:n.*86C>T
ENST00000372880.5:c.*86C>T	ENSP00000361971.1:n.*86C>T
ENST00000618050.4:c.2065C>T	ENSP00000479125.1:n.2065C>T
ENST00000621635.4:c.*86C>T	ENSP00000483570.1:n.*86C>T
NM_000061.2:c.*86C>T , LRG_128t1:c.*86C>T	NP_000052.1:n.*86C>T
NM_001287344.1:c.*86C>T	NP_001274273.1:n.*86C>T
NM_001287345.1:c.*86C>T	NP_001274274.1:n.*86C>T
NM_000061.3:c.*86C>T MANE Select	NP_000052.1:n.*86C>T
NM_001287344.2:c.*86C>T	NP_001274273.1:n.*86C>T
NM_001287345.2:c.*86C>T	NP_001274274.1:n.*86C>T