Canonical Allele Identifier: CA10631375
Gene: CABP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 305711
ClinVar RCV Id: RCV000321620
dbSNP Id: rs11227799
gnomAD v2: 11-67228457-G-A
gnomAD v3: 11-67460986-G-A
gnomAD v4: 11-67460986-G-A
MyVariant Identifiers: chr11:g.67228457G>A (hg19) chr11:g.67228457_67228459delinsAAA (hg19) chr11:g.67460986G>A (hg38) chr11:g.67460986_67460988delinsAAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67460986G>A , CM000673.2:g.67460986G>A GRCh38
NC_000011.9:g.67228457G>A , CM000673.1:g.67228457G>A GRCh37
NC_000011.8:g.66985033G>A NCBI36
NG_021211.1:g.10640G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325656.7:c.*2327G>A MANE Select ENSP00000324960.5:n.*2327G>A
NM_001300895.1:c.*2327G>A NP_001287824.1:n.*2327G>A
NM_001300896.1:c.*2327G>A NP_001287825.1:n.*2327G>A
NM_145200.3:c.*2327G>A NP_660201.1:n.*2327G>A
XM_024448615.1:c.*2327G>A XP_024304383.1:n.*2327G>A
XM_024448616.1:c.*2327G>A XP_024304384.1:n.*2327G>A
NM_001300895.2:c.*2327G>A NP_001287824.1:n.*2327G>A
NM_001300896.2:c.*2327G>A NP_001287825.1:n.*2327G>A
NM_145200.4:c.*2327G>A NP_660201.1:n.*2327G>A
NM_001300895.3:c.*2327G>A NP_001287824.1:n.*2327G>A
NM_001300896.3:c.*2327G>A NP_001287825.1:n.*2327G>A
NM_001379183.1:c.*2327G>A NP_001366112.1:n.*2327G>A
NM_145200.5:c.*2327G>A MANE Select NP_660201.1:n.*2327G>A
NR_166529.1:n.3050G>A
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