Canonical Allele Identifier: CA7516428

Gene: CDAN1

Linked Data

• ClinVar Variation Id: 315953
• ClinVar RCV Id: RCV000380741 ; RCV000896105 ; RCV001330350
• dbSNP Id: rs543791953
• ExAC: 15:43028813 G / A
• gnomAD v2: 15-43028813-G-A
• gnomAD v3: 15-42736615-G-A
• gnomAD v4: 15-42736615-G-A
• MyVariant Identifiers: chr15:g.43028813G>A (hg19) ; chr15:g.42736615G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42736615G>A , CM000677.2:g.42736615G>A	GRCh38
NC_000015.9:g.43028813G>A , CM000677.1:g.43028813G>A	GRCh37
NC_000015.8:g.40816105G>A	NCBI36
NG_012491.1:g.5605C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356231.4:c.256C>T MANE Select	ENSP00000348564.3:p.Pro86Ser
ENST00000643434.1:c.90+398C>T	ENSP00000494699.1:n.90+398C>T
ENST00000356231.3:c.256C>T	ENSP00000348564.3:p.Pro86Ser
ENST00000563260.1:c.232C>T	ENSP00000455536.1:p.Pro78Ser
NM_138477.2:c.256C>T	NP_612486.2:p.Pro86Ser
XM_005254176.3:c.256C>T	XP_005254233.1:p.Pro86Ser
XM_011521270.1:c.280C>T	XP_011519572.1:p.Pro94Ser
XM_011521271.1:c.280C>T	XP_011519573.1:p.Pro94Ser
XM_011521272.1:c.280C>T	XP_011519574.1:p.Pro94Ser
XM_011521273.1:c.280C>T	XP_011519575.1:p.Pro94Ser
XM_011521275.1:c.-191+398C>T	XP_011519577.1:n.-191+398C>T
XR_931757.1:n.291C>T
NM_138477.4:c.256C>T MANE Select	NP_612486.2:p.Pro86Ser
XM_005254176.5:c.256C>T	XP_005254233.1:p.Pro86Ser
XM_011521270.2:c.280C>T	XP_011519572.1:p.Pro94Ser
XM_011521271.2:c.280C>T	XP_011519573.1:p.Pro94Ser
XR_001751104.1:n.310C>T
XR_001751105.1:n.310C>T
XR_931757.2:n.311C>T