Canonical Allele Identifier: CA413924972

Gene: BTK

Linked Data

• dbSNP Id: rs1926500586
• gnomAD v3: X-101356826-G-A
• gnomAD v4: X-101356826-G-A
• MyVariant Identifiers: chrX:g.100611814G>A (hg19) ; chrX:g.101356826G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101356826G>A , CM000685.2:g.101356826G>A	GRCh38
NC_000023.10:g.100611814G>A , CM000685.1:g.100611814G>A	GRCh37
NC_000023.9:g.100498470G>A	NCBI36
NG_009616.1:g.34399C>T , LRG_128:g.34399C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.1467C>T
ENST00000488970.2:n.1465C>T
ENST00000695614.1:c.1307C>T	ENSP00000512053.1:p.Ser436Phe
ENST00000695615.1:c.1307C>T	ENSP00000512054.1:p.Ser436Phe
ENST00000695616.1:c.*1152C>T	ENSP00000512055.1:n.*1152C>T
ENST00000695617.1:c.1304C>T	ENSP00000512056.1:p.Ser435Phe
ENST00000695618.1:c.*1056C>T	ENSP00000512058.1:n.*1056C>T
ENST00000695619.1:c.*1017C>T	ENSP00000512059.1:n.*1017C>T
ENST00000695620.1:c.*1152C>T	ENSP00000512060.1:n.*1152C>T
ENST00000695621.1:c.1307C>T	ENSP00000512061.1:p.Ser436Phe
ENST00000695622.1:c.1244C>T	ENSP00000512062.1:p.Ser415Phe
ENST00000695623.1:c.1301C>T	ENSP00000512063.1:p.Ser434Phe
ENST00000695624.1:n.612C>T
ENST00000695625.1:c.1307C>T	ENSP00000512064.1:p.Ser436Phe
ENST00000695626.1:c.279C>T	ENSP00000512065.1:p.Leu93=
ENST00000695627.1:c.320C>T	ENSP00000512066.1:p.Ser107Phe
ENST00000695628.1:c.190+683C>T	ENSP00000512067.1:n.190+683C>T
ENST00000695629.1:c.190+683C>T	ENSP00000512068.1:n.190+683C>T
ENST00000695630.1:c.316C>T
ENST00000695631.1:c.114+1484C>T
ENST00000695632.1:n.324C>T
ENST00000703407.1:c.1038+1548C>T	ENSP00000512057.1:n.1038+1548C>T
ENST00000308731.8:c.1307C>T MANE Select	ENSP00000308176.8:p.Ser436Phe
ENST00000308731.7:c.1307C>T	ENSP00000308176.7:p.Ser436Phe
ENST00000372880.5:c.1038+1548C>T	ENSP00000361971.1:n.1038+1548C>T
ENST00000470329.1:n.257C>T
ENST00000618050.4:c.1307C>T	ENSP00000479125.1:p.Ser436Phe
ENST00000621635.4:c.1409C>T	ENSP00000483570.1:p.Ser470Phe
NM_000061.2:c.1307C>T , LRG_128t1:c.1307C>T	NP_000052.1:p.Ser436Phe
NM_001287344.1:c.1409C>T	NP_001274273.1:p.Ser470Phe
NM_001287345.1:c.1038+1548C>T	NP_001274274.1:n.1038+1548C>T
NM_000061.3:c.1307C>T MANE Select	NP_000052.1:p.Ser436Phe
NM_001287344.2:c.1409C>T	NP_001274273.1:p.Ser470Phe
NM_001287345.2:c.1038+1548C>T	NP_001274274.1:n.1038+1548C>T