Canonical Allele Identifier: CA10473257

Gene: BTK

Linked Data

• ClinVar Variation Id: 402436
• ClinVar RCV Id: RCV000456065
• dbSNP Id: rs5951308
• ExAC: X:100645467 T / C
• gnomAD v2: X-100645467-T-C
• gnomAD v3: X-101390479-T-C
• gnomAD v4: X-101390479-T-C
• COSMIC: COSN19695355
• MyVariant Identifiers: chrX:g.100645467T>C (hg19) ; chrX:g.101390479T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101390479T>C , CM000685.2:g.101390479T>C	GRCh38
NC_000023.10:g.100645467T>C , CM000685.1:g.100645467T>C	GRCh37
NC_000023.9:g.100532123T>C	NCBI36
NG_009616.1:g.746A>G , LRG_128:g.746A>G
NG_012523.1:g.4520T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695633.1:n.282A>G
ENST00000695634.1:n.282A>G
ENST00000621635.4:c.71A>G	ENSP00000483570.1:p.Glu24Gly
NM_001287344.1:c.71A>G	NP_001274273.1:p.Glu24Gly
NM_001287344.2:c.71A>G	NP_001274273.1:p.Glu24Gly