Canonical Allele Identifier: CA7515252

Gene: CDAN1

Linked Data

• ClinVar Variation Id: 315922
• ClinVar RCV Id: RCV000381230 ; RCV001573140 ; RCV001702422 ; RCV001801775 ; RCV003930351
• dbSNP Id: rs61746356
• ExAC: 15:43018518 C / T
• gnomAD v2: 15-43018518-C-T
• gnomAD v3: 15-42726320-C-T
• gnomAD v4: 15-42726320-C-T
• MyVariant Identifiers: chr15:g.43018518C>T (hg19) ; chr15:g.42726320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42726320C>T , CM000677.2:g.42726320C>T	GRCh38
NC_000015.9:g.43018518C>T , CM000677.1:g.43018518C>T	GRCh37
NC_000015.8:g.40805810C>T	NCBI36
NG_012491.1:g.15900G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356231.4:c.3194G>A MANE Select	ENSP00000348564.3:p.Arg1065Gln
ENST00000643434.1:c.*2325G>A	ENSP00000494699.1:n.*2325G>A
ENST00000356231.3:c.3194G>A	ENSP00000348564.3:p.Arg1065Gln
ENST00000562465.5:c.1140G>A	ENSP00000454246.1:n.1140G>A
NM_138477.2:c.3194G>A	NP_612486.2:p.Arg1065Gln
XM_005254176.3:c.3197G>A	XP_005254233.1:p.Arg1066Gln
XM_011521270.1:c.3221G>A	XP_011519572.1:p.Arg1074Gln
XM_011521271.1:c.3218G>A	XP_011519573.1:p.Arg1073Gln
XM_011521272.1:c.3221G>A	XP_011519574.1:p.Arg1074Gln
XM_011521274.1:c.2186G>A	XP_011519576.1:p.Arg729Gln
XM_011521275.1:c.2438G>A	XP_011519577.1:p.Arg813Gln
NM_138477.4:c.3194G>A MANE Select	NP_612486.2:p.Arg1065Gln
XM_005254176.5:c.3197G>A	XP_005254233.1:p.Arg1066Gln
XM_011521270.2:c.3221G>A	XP_011519572.1:p.Arg1074Gln
XM_011521271.2:c.3218G>A	XP_011519573.1:p.Arg1073Gln
XM_011521274.2:c.2186G>A	XP_011519576.1:p.Arg729Gln
XR_001751104.1:n.3251G>A
XR_001751105.1:n.3204G>A