Canonical Allele Identifier: CA10645817

Gene: BTK

Linked Data

• ClinVar Variation Id: 367697
• ClinVar RCV Id: RCV000260615 ; RCV000369368
• dbSNP Id: rs1057515724
• gnomAD v3: X-101359335-T-C
• gnomAD v4: X-101359335-T-C
• MyVariant Identifiers: chrX:g.100614323T>C (hg19) ; chrX:g.101359335T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101359335T>C , CM000685.2:g.101359335T>C	GRCh38
NC_000023.10:g.100614323T>C , CM000685.1:g.100614323T>C	GRCh37
NC_000023.9:g.100500979T>C	NCBI36
NG_009616.1:g.31890A>G , LRG_128:g.31890A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000464006.2:n.632A>G
ENST00000478995.2:n.1012A>G
ENST00000488970.2:n.1010A>G
ENST00000695614.1:c.852A>G	ENSP00000512053.1:p.Lys284=
ENST00000695615.1:c.852A>G	ENSP00000512054.1:p.Lys284=
ENST00000695616.1:c.*697A>G	ENSP00000512055.1:n.*697A>G
ENST00000695617.1:c.849A>G	ENSP00000512056.1:p.Lys283=
ENST00000695618.1:c.*601A>G	ENSP00000512058.1:n.*601A>G
ENST00000695619.1:c.*684+753A>G	ENSP00000512059.1:n.*684+753A>G
ENST00000695620.1:c.*697A>G	ENSP00000512060.1:n.*697A>G
ENST00000695621.1:c.852A>G	ENSP00000512061.1:p.Lys284=
ENST00000695622.1:c.789A>G	ENSP00000512062.1:p.Lys263=
ENST00000695623.1:c.846A>G	ENSP00000512063.1:p.Lys282=
ENST00000695624.1:n.157A>G
ENST00000695625.1:c.852A>G	ENSP00000512064.1:p.Lys284=
ENST00000703407.1:c.852A>G	ENSP00000512057.1:p.Lys284=
ENST00000308731.8:c.852A>G MANE Select	ENSP00000308176.8:p.Lys284=
ENST00000308731.7:c.852A>G	ENSP00000308176.7:p.Lys284=
ENST00000372880.5:c.852A>G	ENSP00000361971.1:p.Lys284=
ENST00000618050.4:c.852A>G	ENSP00000479125.1:p.Lys284=
ENST00000621635.4:c.954A>G	ENSP00000483570.1:p.Lys318=
NM_000061.2:c.852A>G , LRG_128t1:c.852A>G	NP_000052.1:p.Lys284=
NM_001287344.1:c.954A>G	NP_001274273.1:p.Lys318=
NM_001287345.1:c.852A>G	NP_001274274.1:p.Lys284=
NM_000061.3:c.852A>G MANE Select	NP_000052.1:p.Lys284=
NM_001287344.2:c.954A>G	NP_001274273.1:p.Lys318=
NM_001287345.2:c.852A>G	NP_001274274.1:p.Lys284=