Canonical Allele Identifier: CA6140218

Gene: CABP4

Linked Data

• ClinVar Variation Id: 305650
• ClinVar RCV Id: RCV000323189
• dbSNP Id: rs766247910
• ExAC: 11:67223804 C / T
• gnomAD v2: 11-67223804-C-T
• gnomAD v3: 11-67456333-C-T
• gnomAD v4: 11-67456333-C-T
• MyVariant Identifiers: chr11:g.67223804C>T (hg19) ; chr11:g.67456333C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67456333C>T , CM000673.2:g.67456333C>T	GRCh38
NC_000011.9:g.67223804C>T , CM000673.1:g.67223804C>T	GRCh37
NC_000011.8:g.66980380C>T	NCBI36
NG_021211.1:g.5987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325656.7:c.432C>T MANE Select	ENSP00000324960.5:p.Asp144=
ENST00000325656.6:c.432C>T	ENSP00000324960.5:p.Asp144=
ENST00000438189.6:c.117C>T	ENSP00000401555.2:p.Asp39=
ENST00000545777.1:c.*113C>T	ENSP00000439145.1:n.*113C>T
NM_001300895.1:c.117C>T	NP_001287824.1:p.Asp39=
NM_001300896.1:c.117C>T	NP_001287825.1:p.Asp39=
NM_145200.3:c.432C>T	NP_660201.1:p.Asp144=
XM_005274114.2:c.492C>T	XP_005274171.2:p.Asp164=
XM_011545181.1:c.492C>T	XP_011543483.1:p.Asp164=
XM_011545182.1:c.457+115C>T	XP_011543484.1:n.457+115C>T
XM_011545183.1:c.117C>T	XP_011543485.1:p.Asp39=
XM_011545184.1:c.117C>T	XP_011543486.1:p.Asp39=
XM_005274114.3:c.492C>T	XP_005274171.2:p.Asp164=
XM_011545181.2:c.492C>T	XP_011543483.1:p.Asp164=
XM_011545182.2:c.457+115C>T	XP_011543484.1:n.457+115C>T
XM_011545183.2:c.117C>T	XP_011543485.1:p.Asp39=
XM_017018025.1:c.117C>T	XP_016873514.1:p.Asp39=
XM_024448615.1:c.432C>T	XP_024304383.1:p.Asp144=
XM_024448616.1:c.117C>T	XP_024304384.1:p.Asp39=
NM_001300895.2:c.117C>T	NP_001287824.1:p.Asp39=
NM_001300896.2:c.117C>T	NP_001287825.1:p.Asp39=
NM_145200.4:c.432C>T	NP_660201.1:p.Asp144=
NM_001300895.3:c.117C>T	NP_001287824.1:p.Asp39=
NM_001300896.3:c.117C>T	NP_001287825.1:p.Asp39=
NM_001379183.1:c.117C>T	NP_001366112.1:p.Asp39=
NM_145200.5:c.432C>T MANE Select	NP_660201.1:p.Asp144=
NR_166529.1:n.436+544C>T