Canonical Allele Identifier: CA10639861

Gene: CABP4

Linked Data

• ClinVar Variation Id: 305677
• ClinVar RCV Id: RCV000334563
• dbSNP Id: rs146149609
• gnomAD v2: 11-67227421-A-G
• gnomAD v3: 11-67459950-A-G
• gnomAD v4: 11-67459950-A-G
• MyVariant Identifiers: chr11:g.67227421A>G (hg19) ; chr11:g.67459950A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67459950A>G , CM000673.2:g.67459950A>G	GRCh38
NC_000011.9:g.67227421A>G , CM000673.1:g.67227421A>G	GRCh37
NC_000011.8:g.66983997A>G	NCBI36
NG_021211.1:g.9604A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325656.7:c.*1291A>G MANE Select	ENSP00000324960.5:n.*1291A>G
ENST00000325656.6:c.*1291A>G	ENSP00000324960.5:n.*1291A>G
NM_001300895.1:c.*1291A>G	NP_001287824.1:n.*1291A>G
NM_001300896.1:c.*1291A>G	NP_001287825.1:n.*1291A>G
NM_145200.3:c.*1291A>G	NP_660201.1:n.*1291A>G
XM_024448615.1:c.*1291A>G	XP_024304383.1:n.*1291A>G
XM_024448616.1:c.*1291A>G	XP_024304384.1:n.*1291A>G
NM_001300895.2:c.*1291A>G	NP_001287824.1:n.*1291A>G
NM_001300896.2:c.*1291A>G	NP_001287825.1:n.*1291A>G
NM_145200.4:c.*1291A>G	NP_660201.1:n.*1291A>G
NM_001300895.3:c.*1291A>G	NP_001287824.1:n.*1291A>G
NM_001300896.3:c.*1291A>G	NP_001287825.1:n.*1291A>G
NM_001379183.1:c.*1291A>G	NP_001366112.1:n.*1291A>G
NM_145200.5:c.*1291A>G MANE Select	NP_660201.1:n.*1291A>G
NR_166529.1:n.2014A>G