Canonical Allele Identifier: CA475509360

Gene: CABP4

Linked Data

• ClinVar Variation Id: 1574210
• ClinVar RCV Id: RCV002080522
• dbSNP Id: rs1402092785
• gnomAD v2: 11-67223158-T-C
• gnomAD v3: 11-67455687-T-C
• gnomAD v4: 11-67455687-T-C
• MyVariant Identifiers: chr11:g.67223158T>C (hg19) ; chr11:g.67455687T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67455687T>C , CM000673.2:g.67455687T>C	GRCh38
NC_000011.9:g.67223158T>C , CM000673.1:g.67223158T>C	GRCh37
NC_000011.8:g.66979734T>C	NCBI36
NG_021211.1:g.5341T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325656.7:c.264T>C MANE Select	ENSP00000324960.5:p.Pro88=
ENST00000325656.6:c.264T>C	ENSP00000324960.5:p.Pro88=
ENST00000438189.6:c.-112-22T>C	ENSP00000401555.2:n.-112-22T>C
ENST00000538060.1:n.549T>C
ENST00000542025.2:n.661T>C
ENST00000545777.1:c.264T>C	ENSP00000439145.1:p.Pro88=
NM_001300895.1:c.-120T>C	NP_001287824.1:n.-120T>C
NM_001300896.1:c.-112-22T>C	NP_001287825.1:n.-112-22T>C
NM_145200.3:c.264T>C	NP_660201.1:p.Pro88=
XM_005274114.2:c.324T>C	XP_005274171.2:p.Pro108=
XM_011545181.1:c.324T>C	XP_011543483.1:p.Pro108=
XM_011545182.1:c.324T>C	XP_011543484.1:p.Pro108=
XM_011545183.1:c.-112-22T>C	XP_011543485.1:n.-112-22T>C
XM_005274114.3:c.324T>C	XP_005274171.2:p.Pro108=
XM_011545181.2:c.324T>C	XP_011543483.1:p.Pro108=
XM_011545182.2:c.324T>C	XP_011543484.1:p.Pro108=
XM_011545183.2:c.-112-22T>C	XP_011543485.1:n.-112-22T>C
XM_017018025.1:c.-134T>C	XP_016873514.1:n.-134T>C
XM_024448615.1:c.264T>C	XP_024304383.1:p.Pro88=
XM_024448616.1:c.-120T>C	XP_024304384.1:n.-120T>C
NM_001300895.2:c.-120T>C	NP_001287824.1:n.-120T>C
NM_001300896.2:c.-112-22T>C	NP_001287825.1:n.-112-22T>C
NM_145200.4:c.264T>C	NP_660201.1:p.Pro88=
NM_001300895.3:c.-120T>C	NP_001287824.1:n.-120T>C
NM_001300896.3:c.-112-22T>C	NP_001287825.1:n.-112-22T>C
NM_001379183.1:c.-134T>C	NP_001366112.1:n.-134T>C
NM_145200.5:c.264T>C MANE Select	NP_660201.1:p.Pro88=
NR_166529.1:n.334T>C