Canonical Allele Identifier: CA10639869

Gene: CABP4

Linked Data

• ClinVar Variation Id: 305699
• ClinVar RCV Id: RCV000309669
• dbSNP Id: rs7936733
• gnomAD v2: 11-67227989-C-T
• gnomAD v3: 11-67460518-C-T
• gnomAD v4: 11-67460518-C-T
• MyVariant Identifiers: chr11:g.67227989C>T (hg19) ; chr11:g.67460518C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67460518C>T , CM000673.2:g.67460518C>T	GRCh38
NC_000011.9:g.67227989C>T , CM000673.1:g.67227989C>T	GRCh37
NC_000011.8:g.66984565C>T	NCBI36
NG_021211.1:g.10172C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325656.7:c.*1859C>T MANE Select	ENSP00000324960.5:n.*1859C>T
NM_001300895.1:c.*1859C>T	NP_001287824.1:n.*1859C>T
NM_001300896.1:c.*1859C>T	NP_001287825.1:n.*1859C>T
NM_145200.3:c.*1859C>T	NP_660201.1:n.*1859C>T
XM_024448615.1:c.*1859C>T	XP_024304383.1:n.*1859C>T
XM_024448616.1:c.*1859C>T	XP_024304384.1:n.*1859C>T
NM_001300895.2:c.*1859C>T	NP_001287824.1:n.*1859C>T
NM_001300896.2:c.*1859C>T	NP_001287825.1:n.*1859C>T
NM_145200.4:c.*1859C>T	NP_660201.1:n.*1859C>T
NM_001300895.3:c.*1859C>T	NP_001287824.1:n.*1859C>T
NM_001300896.3:c.*1859C>T	NP_001287825.1:n.*1859C>T
NM_001379183.1:c.*1859C>T	NP_001366112.1:n.*1859C>T
NM_145200.5:c.*1859C>T MANE Select	NP_660201.1:n.*1859C>T
NR_166529.1:n.2582C>T