Canonical Allele Identifier: CA6140111

Gene: CABP4

Linked Data

• ClinVar Variation Id: 1346543
• ClinVar RCV Id: RCV002030070
• dbSNP Id: rs763071394
• ExAC: 11:67223141 G / A
• gnomAD v2: 11-67223141-G-A
• gnomAD v3: 11-67455670-G-A
• gnomAD v4: 11-67455670-G-A
• COSMIC: COSM2042054
• MyVariant Identifiers: chr11:g.67223141G>A (hg19) ; chr11:g.67455670G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67455670G>A , CM000673.2:g.67455670G>A	GRCh38
NC_000011.9:g.67223141G>A , CM000673.1:g.67223141G>A	GRCh37
NC_000011.8:g.66979717G>A	NCBI36
NG_021211.1:g.5324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325656.7:c.247G>A MANE Select	ENSP00000324960.5:p.Ala83Thr
ENST00000325656.6:c.247G>A	ENSP00000324960.5:p.Ala83Thr
ENST00000438189.6:c.-112-39G>A	ENSP00000401555.2:n.-112-39G>A
ENST00000538060.1:n.532G>A
ENST00000542025.2:n.644G>A
ENST00000545777.1:c.247G>A	ENSP00000439145.1:p.Ala83Thr
NM_001300895.1:c.-137G>A	NP_001287824.1:n.-137G>A
NM_001300896.1:c.-112-39G>A	NP_001287825.1:n.-112-39G>A
NM_145200.3:c.247G>A	NP_660201.1:p.Ala83Thr
XM_005274114.2:c.307G>A	XP_005274171.2:p.Ala103Thr
XM_011545181.1:c.307G>A	XP_011543483.1:p.Ala103Thr
XM_011545182.1:c.307G>A	XP_011543484.1:p.Ala103Thr
XM_011545183.1:c.-112-39G>A	XP_011543485.1:n.-112-39G>A
XM_005274114.3:c.307G>A	XP_005274171.2:p.Ala103Thr
XM_011545181.2:c.307G>A	XP_011543483.1:p.Ala103Thr
XM_011545182.2:c.307G>A	XP_011543484.1:p.Ala103Thr
XM_011545183.2:c.-112-39G>A	XP_011543485.1:n.-112-39G>A
XM_017018025.1:c.-151G>A	XP_016873514.1:n.-151G>A
XM_024448615.1:c.247G>A	XP_024304383.1:p.Ala83Thr
XM_024448616.1:c.-137G>A	XP_024304384.1:n.-137G>A
NM_001300895.2:c.-137G>A	NP_001287824.1:n.-137G>A
NM_001300896.2:c.-112-39G>A	NP_001287825.1:n.-112-39G>A
NM_145200.4:c.247G>A	NP_660201.1:p.Ala83Thr
NM_001300895.3:c.-137G>A	NP_001287824.1:n.-137G>A
NM_001300896.3:c.-112-39G>A	NP_001287825.1:n.-112-39G>A
NM_001379183.1:c.-151G>A	NP_001366112.1:n.-151G>A
NM_145200.5:c.247G>A MANE Select	NP_660201.1:p.Ala83Thr
NR_166529.1:n.317G>A