Canonical Allele Identifier: CA6140132

Gene: CABP4

Linked Data

• ClinVar Variation Id: 305644
• ClinVar RCV Id: RCV000311838 ; RCV001464404
• dbSNP Id: rs555315887
• ExAC: 11:67223203 C / T
• gnomAD v2: 11-67223203-C-T
• gnomAD v3: 11-67455732-C-T
• gnomAD v4: 11-67455732-C-T
• MyVariant Identifiers: chr11:g.67223203C>T (hg19) ; chr11:g.67455732C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67455732C>T , CM000673.2:g.67455732C>T	GRCh38
NC_000011.9:g.67223203C>T , CM000673.1:g.67223203C>T	GRCh37
NC_000011.8:g.66979779C>T	NCBI36
NG_021211.1:g.5386C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325656.7:c.309C>T MANE Select	ENSP00000324960.5:p.Ser103=
ENST00000325656.6:c.309C>T	ENSP00000324960.5:p.Ser103=
ENST00000438189.6:c.-89C>T	ENSP00000401555.2:n.-89C>T
ENST00000542025.2:n.706C>T
ENST00000545777.1:c.309C>T	ENSP00000439145.1:p.Ser103=
NM_001300895.1:c.-75C>T	NP_001287824.1:n.-75C>T
NM_001300896.1:c.-89C>T	NP_001287825.1:n.-89C>T
NM_145200.3:c.309C>T	NP_660201.1:p.Ser103=
XM_005274114.2:c.369C>T	XP_005274171.2:p.Ser123=
XM_011545181.1:c.369C>T	XP_011543483.1:p.Ser123=
XM_011545182.1:c.369C>T	XP_011543484.1:p.Ser123=
XM_011545183.1:c.-89C>T	XP_011543485.1:n.-89C>T
XM_011545184.1:c.-89C>T	XP_011543486.1:n.-89C>T
XM_005274114.3:c.369C>T	XP_005274171.2:p.Ser123=
XM_011545181.2:c.369C>T	XP_011543483.1:p.Ser123=
XM_011545182.2:c.369C>T	XP_011543484.1:p.Ser123=
XM_011545183.2:c.-89C>T	XP_011543485.1:n.-89C>T
XM_017018025.1:c.-89C>T	XP_016873514.1:n.-89C>T
XM_024448615.1:c.309C>T	XP_024304383.1:p.Ser103=
XM_024448616.1:c.-75C>T	XP_024304384.1:n.-75C>T
NM_001300895.2:c.-75C>T	NP_001287824.1:n.-75C>T
NM_001300896.2:c.-89C>T	NP_001287825.1:n.-89C>T
NM_145200.4:c.309C>T	NP_660201.1:p.Ser103=
NM_001300895.3:c.-75C>T	NP_001287824.1:n.-75C>T
NM_001300896.3:c.-89C>T	NP_001287825.1:n.-89C>T
NM_001379183.1:c.-89C>T	NP_001366112.1:n.-89C>T
NM_145200.5:c.309C>T MANE Select	NP_660201.1:p.Ser103=
NR_166529.1:n.379C>T