Canonical Allele Identifier: CA6140250

Gene: CABP4

Linked Data

• ClinVar Variation Id: 305654
• ClinVar RCV Id: RCV000384075 ; RCV001660603
• dbSNP Id: rs1638564
• ExAC: 11:67223920 C / G
• gnomAD v2: 11-67223920-C-G
• gnomAD v3: 11-67456449-C-G
• gnomAD v4: 11-67456449-C-G
• MyVariant Identifiers: chr11:g.67223920C>G (hg19) ; chr11:g.67456449C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67456449C>G , CM000673.2:g.67456449C>G	GRCh38
NC_000011.9:g.67223920C>G , CM000673.1:g.67223920C>G	GRCh37
NC_000011.8:g.66980496C>G	NCBI36
NG_021211.1:g.6103C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325656.7:c.541+7C>G MANE Select	ENSP00000324960.5:n.541+7C>G
ENST00000325656.6:c.541+7C>G	ENSP00000324960.5:n.541+7C>G
ENST00000438189.6:c.226+7C>G	ENSP00000401555.2:n.226+7C>G
ENST00000545777.1:c.*197+32C>G	ENSP00000439145.1:n.*197+32C>G
NM_001300895.1:c.226+7C>G	NP_001287824.1:n.226+7C>G
NM_001300896.1:c.226+7C>G	NP_001287825.1:n.226+7C>G
NM_145200.3:c.541+7C>G	NP_660201.1:n.541+7C>G
XM_005274114.2:c.576+32C>G	XP_005274171.2:n.576+32C>G
XM_011545181.1:c.601+7C>G	XP_011543483.1:n.601+7C>G
XM_011545182.1:c.457+231C>G	XP_011543484.1:n.457+231C>G
XM_011545183.1:c.226+7C>G	XP_011543485.1:n.226+7C>G
XM_011545184.1:c.226+7C>G	XP_011543486.1:n.226+7C>G
XM_005274114.3:c.576+32C>G	XP_005274171.2:n.576+32C>G
XM_011545181.2:c.601+7C>G	XP_011543483.1:n.601+7C>G
XM_011545182.2:c.457+231C>G	XP_011543484.1:n.457+231C>G
XM_011545183.2:c.226+7C>G	XP_011543485.1:n.226+7C>G
XM_017018025.1:c.226+7C>G	XP_016873514.1:n.226+7C>G
XM_024448615.1:c.541+7C>G	XP_024304383.1:n.541+7C>G
XM_024448616.1:c.226+7C>G	XP_024304384.1:n.226+7C>G
NM_001300895.2:c.226+7C>G	NP_001287824.1:n.226+7C>G
NM_001300896.2:c.226+7C>G	NP_001287825.1:n.226+7C>G
NM_145200.4:c.541+7C>G	NP_660201.1:n.541+7C>G
NM_001300895.3:c.226+7C>G	NP_001287824.1:n.226+7C>G
NM_001300896.3:c.226+7C>G	NP_001287825.1:n.226+7C>G
NM_001379183.1:c.226+7C>G	NP_001366112.1:n.226+7C>G
NM_145200.5:c.541+7C>G MANE Select	NP_660201.1:n.541+7C>G
NR_166529.1:n.436+660C>G