Canonical Allele Identifier: CA10631373

Gene: CABP4

Linked Data

• ClinVar Variation Id: 305708
• ClinVar RCV Id: RCV000315694
• dbSNP Id: rs11822066
• gnomAD v2: 11-67228325-G-A
• gnomAD v3: 11-67460854-G-A
• gnomAD v4: 11-67460854-G-A
• MyVariant Identifiers: chr11:g.67228325G>A (hg19) ; chr11:g.67460854G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67460854G>A , CM000673.2:g.67460854G>A	GRCh38
NC_000011.9:g.67228325G>A , CM000673.1:g.67228325G>A	GRCh37
NC_000011.8:g.66984901G>A	NCBI36
NG_021211.1:g.10508G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325656.7:c.*2195G>A MANE Select	ENSP00000324960.5:n.*2195G>A
NM_001300895.1:c.*2195G>A	NP_001287824.1:n.*2195G>A
NM_001300896.1:c.*2195G>A	NP_001287825.1:n.*2195G>A
NM_145200.3:c.*2195G>A	NP_660201.1:n.*2195G>A
XM_024448615.1:c.*2195G>A	XP_024304383.1:n.*2195G>A
XM_024448616.1:c.*2195G>A	XP_024304384.1:n.*2195G>A
NM_001300895.2:c.*2195G>A	NP_001287824.1:n.*2195G>A
NM_001300896.2:c.*2195G>A	NP_001287825.1:n.*2195G>A
NM_145200.4:c.*2195G>A	NP_660201.1:n.*2195G>A
NM_001300895.3:c.*2195G>A	NP_001287824.1:n.*2195G>A
NM_001300896.3:c.*2195G>A	NP_001287825.1:n.*2195G>A
NM_001379183.1:c.*2195G>A	NP_001366112.1:n.*2195G>A
NM_145200.5:c.*2195G>A MANE Select	NP_660201.1:n.*2195G>A
NR_166529.1:n.2918G>A