Canonical Allele Identifier: CA6140145

Gene: CABP4

Linked Data

• ClinVar Variation Id: 1517072
• ClinVar RCV Id: RCV002027076
• dbSNP Id: rs549293344
• ExAC: 11:67223255 G / C
• gnomAD v2: 11-67223255-G-C
• gnomAD v3: 11-67455784-G-C
• gnomAD v4: 11-67455784-G-C
• MyVariant Identifiers: chr11:g.67223255G>C (hg19) ; chr11:g.67455784G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67455784G>C , CM000673.2:g.67455784G>C	GRCh38
NC_000011.9:g.67223255G>C , CM000673.1:g.67223255G>C	GRCh37
NC_000011.8:g.66979831G>C	NCBI36
NG_021211.1:g.5438G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325656.7:c.361G>C MANE Select	ENSP00000324960.5:p.Gly121Arg
ENST00000325656.6:c.361G>C	ENSP00000324960.5:p.Gly121Arg
ENST00000438189.6:c.-37G>C	ENSP00000401555.2:n.-37G>C
ENST00000542025.2:n.758G>C
ENST00000545777.1:c.361G>C	ENSP00000439145.1:p.Gly121Arg
NM_001300895.1:c.-23G>C	NP_001287824.1:n.-23G>C
NM_001300896.1:c.-37G>C	NP_001287825.1:n.-37G>C
NM_145200.3:c.361G>C	NP_660201.1:p.Gly121Arg
XM_005274114.2:c.421G>C	XP_005274171.2:p.Gly141Arg
XM_011545181.1:c.421G>C	XP_011543483.1:p.Gly141Arg
XM_011545182.1:c.421G>C	XP_011543484.1:p.Gly141Arg
XM_011545183.1:c.-37G>C	XP_011543485.1:n.-37G>C
XM_011545184.1:c.-37G>C	XP_011543486.1:n.-37G>C
XM_005274114.3:c.421G>C	XP_005274171.2:p.Gly141Arg
XM_011545181.2:c.421G>C	XP_011543483.1:p.Gly141Arg
XM_011545182.2:c.421G>C	XP_011543484.1:p.Gly141Arg
XM_011545183.2:c.-37G>C	XP_011543485.1:n.-37G>C
XM_017018025.1:c.-37G>C	XP_016873514.1:n.-37G>C
XM_024448615.1:c.361G>C	XP_024304383.1:p.Gly121Arg
XM_024448616.1:c.-23G>C	XP_024304384.1:n.-23G>C
NM_001300895.2:c.-23G>C	NP_001287824.1:n.-23G>C
NM_001300896.2:c.-37G>C	NP_001287825.1:n.-37G>C
NM_145200.4:c.361G>C	NP_660201.1:p.Gly121Arg
NM_001300895.3:c.-23G>C	NP_001287824.1:n.-23G>C
NM_001300896.3:c.-37G>C	NP_001287825.1:n.-37G>C
NM_001379183.1:c.-37G>C	NP_001366112.1:n.-37G>C
NM_145200.5:c.361G>C MANE Select	NP_660201.1:p.Gly121Arg
NR_166529.1:n.431G>C