Canonical Allele Identifier: CA10631358
Gene: CABP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 305691
ClinVar RCV Id: RCV000318726
dbSNP Id: rs11227798
gnomAD v2: 11-67227987-T-C
gnomAD v3: 11-67460516-T-C
gnomAD v4: 11-67460516-T-C
MyVariant Identifiers: chr11:g.67227987T>C (hg19) chr11:g.67227987_67228001delinsCACACACACACACAC (hg19) chr11:g.67460516T>C (hg38) chr11:g.67460516_67460530delinsCACACACACACACAC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67460516T>C , CM000673.2:g.67460516T>C GRCh38
NC_000011.9:g.67227987T>C , CM000673.1:g.67227987T>C GRCh37
NC_000011.8:g.66984563T>C NCBI36
NG_021211.1:g.10170T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325656.7:c.*1857T>C MANE Select ENSP00000324960.5:n.*1857T>C
NM_001300895.1:c.*1857T>C NP_001287824.1:n.*1857T>C
NM_001300896.1:c.*1857T>C NP_001287825.1:n.*1857T>C
NM_145200.3:c.*1857T>C NP_660201.1:n.*1857T>C
XM_024448615.1:c.*1857T>C XP_024304383.1:n.*1857T>C
XM_024448616.1:c.*1857T>C XP_024304384.1:n.*1857T>C
NM_001300895.2:c.*1857T>C NP_001287824.1:n.*1857T>C
NM_001300896.2:c.*1857T>C NP_001287825.1:n.*1857T>C
NM_145200.4:c.*1857T>C NP_660201.1:n.*1857T>C
NM_001300895.3:c.*1857T>C NP_001287824.1:n.*1857T>C
NM_001300896.3:c.*1857T>C NP_001287825.1:n.*1857T>C
NM_001379183.1:c.*1857T>C NP_001366112.1:n.*1857T>C
NM_145200.5:c.*1857T>C MANE Select NP_660201.1:n.*1857T>C
NR_166529.1:n.2580T>C
Search 100 bp 5'
Search 100 bp 3'