Canonical Allele Identifier: CA490002049

Gene: CDAN1

Linked Data

• ClinVar Variation Id: 3054438
• ClinVar RCV Id: RCV003969400
• dbSNP Id: rs2061607001
• gnomAD v3: 15-42731250-C-T
• gnomAD v4: 15-42731250-C-T
• MyVariant Identifiers: chr15:g.43023448C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42731250C>T , CM000677.2:g.42731250C>T	GRCh38
NC_000015.9:g.43023448C>T , CM000677.1:g.43023448C>T	GRCh37
NC_000015.8:g.40810740C>T	NCBI36
NG_012491.1:g.10970G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356231.4:c.1821G>A MANE Select	ENSP00000348564.3:p.Glu607=
ENST00000643434.1:c.*999G>A	ENSP00000494699.1:n.*999G>A
ENST00000356231.3:c.1821G>A	ENSP00000348564.3:p.Glu607=
NM_138477.2:c.1821G>A	NP_612486.2:p.Glu607=
XM_005254176.3:c.1824G>A	XP_005254233.1:p.Glu608=
XM_011521270.1:c.1848G>A	XP_011519572.1:p.Glu616=
XM_011521271.1:c.1845G>A	XP_011519573.1:p.Glu615=
XM_011521272.1:c.1848G>A	XP_011519574.1:p.Glu616=
XM_011521273.1:c.1848G>A	XP_011519575.1:p.Glu616=
XM_011521274.1:c.813G>A	XP_011519576.1:p.Glu271=
XM_011521275.1:c.1065G>A	XP_011519577.1:p.Glu355=
XR_931757.1:n.1859G>A
NM_138477.4:c.1821G>A MANE Select	NP_612486.2:p.Glu607=
XM_005254176.5:c.1824G>A	XP_005254233.1:p.Glu608=
XM_011521270.2:c.1848G>A	XP_011519572.1:p.Glu616=
XM_011521271.2:c.1845G>A	XP_011519573.1:p.Glu615=
XM_011521274.2:c.813G>A	XP_011519576.1:p.Glu271=
XR_001751104.1:n.1878G>A
XR_001751105.1:n.1878G>A
XR_931757.2:n.1879G>A