Canonical Allele Identifier: CA10631351

Gene: CABP4

Linked Data

• ClinVar Variation Id: 305683
• ClinVar RCV Id: RCV000364429
• dbSNP Id: rs886048566
• gnomAD v3: 11-67460486-C-T
• gnomAD v4: 11-67460486-C-T
• MyVariant Identifiers: chr11:g.67227957C>T (hg19) ; chr11:g.67460486C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67460486C>T , CM000673.2:g.67460486C>T	GRCh38
NC_000011.9:g.67227957C>T , CM000673.1:g.67227957C>T	GRCh37
NC_000011.8:g.66984533C>T	NCBI36
NG_021211.1:g.10140C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325656.7:c.*1827C>T MANE Select	ENSP00000324960.5:n.*1827C>T
NM_001300895.1:c.*1827C>T	NP_001287824.1:n.*1827C>T
NM_001300896.1:c.*1827C>T	NP_001287825.1:n.*1827C>T
NM_145200.3:c.*1827C>T	NP_660201.1:n.*1827C>T
XM_024448615.1:c.*1827C>T	XP_024304383.1:n.*1827C>T
XM_024448616.1:c.*1827C>T	XP_024304384.1:n.*1827C>T
NM_001300895.2:c.*1827C>T	NP_001287824.1:n.*1827C>T
NM_001300896.2:c.*1827C>T	NP_001287825.1:n.*1827C>T
NM_145200.4:c.*1827C>T	NP_660201.1:n.*1827C>T
NM_001300895.3:c.*1827C>T	NP_001287824.1:n.*1827C>T
NM_001300896.3:c.*1827C>T	NP_001287825.1:n.*1827C>T
NM_001379183.1:c.*1827C>T	NP_001366112.1:n.*1827C>T
NM_145200.5:c.*1827C>T MANE Select	NP_660201.1:n.*1827C>T
NR_166529.1:n.2550C>T