Canonical Allele Identifier: CA10631346

Gene: CABP4

Linked Data

• ClinVar Variation Id: 305674
• ClinVar RCV Id: RCV000338204
• dbSNP Id: rs565802060
• gnomAD v2: 11-67227247-C-A
• gnomAD v3: 11-67459776-C-A
• gnomAD v4: 11-67459776-C-A
• MyVariant Identifiers: chr11:g.67227247C>A (hg19) ; chr11:g.67459776C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67459776C>A , CM000673.2:g.67459776C>A	GRCh38
NC_000011.9:g.67227247C>A , CM000673.1:g.67227247C>A	GRCh37
NC_000011.8:g.66983823C>A	NCBI36
NG_021211.1:g.9430C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325656.7:c.*1117C>A MANE Select	ENSP00000324960.5:n.*1117C>A
ENST00000325656.6:c.*1117C>A	ENSP00000324960.5:n.*1117C>A
NM_001300895.1:c.*1117C>A	NP_001287824.1:n.*1117C>A
NM_001300896.1:c.*1117C>A	NP_001287825.1:n.*1117C>A
NM_145200.3:c.*1117C>A	NP_660201.1:n.*1117C>A
XM_024448615.1:c.*1117C>A	XP_024304383.1:n.*1117C>A
XM_024448616.1:c.*1117C>A	XP_024304384.1:n.*1117C>A
NM_001300895.2:c.*1117C>A	NP_001287824.1:n.*1117C>A
NM_001300896.2:c.*1117C>A	NP_001287825.1:n.*1117C>A
NM_145200.4:c.*1117C>A	NP_660201.1:n.*1117C>A
NM_001300895.3:c.*1117C>A	NP_001287824.1:n.*1117C>A
NM_001300896.3:c.*1117C>A	NP_001287825.1:n.*1117C>A
NM_001379183.1:c.*1117C>A	NP_001366112.1:n.*1117C>A
NM_145200.5:c.*1117C>A MANE Select	NP_660201.1:n.*1117C>A
NR_166529.1:n.1840C>A