Canonical Allele Identifier: CA10473121

Gene: BTK

Linked Data

• dbSNP Id: rs372135557
• ExAC: X:100615168 C / G
• gnomAD v2: X-100615168-C-G
• gnomAD v3: X-101360180-C-G
• gnomAD v4: X-101360180-C-G
• MyVariant Identifiers: chrX:g.100615168C>G (hg19) ; chrX:g.101360180C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101360180C>G , CM000685.2:g.101360180C>G	GRCh38
NC_000023.10:g.100615168C>G , CM000685.1:g.100615168C>G	GRCh37
NC_000023.9:g.100501824C>G	NCBI36
NG_009616.1:g.31045G>C , LRG_128:g.31045G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000464006.2:n.557-30G>C
ENST00000478995.2:n.937-30G>C
ENST00000488970.2:n.935-30G>C
ENST00000695614.1:c.777-30G>C	ENSP00000512053.1:n.777-30G>C
ENST00000695615.1:c.777-30G>C	ENSP00000512054.1:n.777-30G>C
ENST00000695616.1:c.*622-30G>C	ENSP00000512055.1:n.*622-30G>C
ENST00000695617.1:c.774-30G>C	ENSP00000512056.1:n.774-30G>C
ENST00000695618.1:c.*526-30G>C	ENSP00000512058.1:n.*526-30G>C
ENST00000695619.1:c.*622-30G>C	ENSP00000512059.1:n.*622-30G>C
ENST00000695620.1:c.*622-30G>C	ENSP00000512060.1:n.*622-30G>C
ENST00000695621.1:c.777-30G>C	ENSP00000512061.1:n.777-30G>C
ENST00000695622.1:c.776+388G>C	ENSP00000512062.1:n.776+388G>C
ENST00000695623.1:c.777-30G>C	ENSP00000512063.1:n.777-30G>C
ENST00000695624.1:n.52G>C
ENST00000695625.1:c.777-30G>C	ENSP00000512064.1:n.777-30G>C
ENST00000703407.1:c.777-30G>C	ENSP00000512057.1:n.777-30G>C
ENST00000308731.8:c.777-30G>C MANE Select	ENSP00000308176.8:n.777-30G>C
ENST00000308731.7:c.777-30G>C	ENSP00000308176.7:n.777-30G>C
ENST00000372880.5:c.777-30G>C	ENSP00000361971.1:n.777-30G>C
ENST00000618050.4:c.777-30G>C	ENSP00000479125.1:n.777-30G>C
ENST00000621635.4:c.879-30G>C	ENSP00000483570.1:n.879-30G>C
NM_000061.2:c.777-30G>C , LRG_128t1:c.777-30G>C	NP_000052.1:n.777-30G>C
NM_001287344.1:c.879-30G>C	NP_001274273.1:n.879-30G>C
NM_001287345.1:c.777-30G>C	NP_001274274.1:n.777-30G>C
NM_000061.3:c.777-30G>C MANE Select	NP_000052.1:n.777-30G>C
NM_001287344.2:c.879-30G>C	NP_001274273.1:n.879-30G>C
NM_001287345.2:c.777-30G>C	NP_001274274.1:n.777-30G>C