Canonical Allele Identifier: CA7515765

Gene: CDAN1

Linked Data

• ClinVar Variation Id: 315937
• ClinVar RCV Id: RCV000316821 ; RCV001731594 ; RCV003144206
• dbSNP Id: rs150491625
• ExAC: 15:43022391 T / G
• gnomAD v2: 15-43022391-T-G
• gnomAD v3: 15-42730193-T-G
• gnomAD v4: 15-42730193-T-G
• MyVariant Identifiers: chr15:g.43022391T>G (hg19) ; chr15:g.42730193T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42730193T>G , CM000677.2:g.42730193T>G	GRCh38
NC_000015.9:g.43022391T>G , CM000677.1:g.43022391T>G	GRCh37
NC_000015.8:g.40809683T>G	NCBI36
NG_012491.1:g.12027A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356231.4:c.2197A>C MANE Select	ENSP00000348564.3:p.Ser733Arg
ENST00000643434.1:c.*1375A>C	ENSP00000494699.1:n.*1375A>C
ENST00000356231.3:c.2197A>C	ENSP00000348564.3:p.Ser733Arg
ENST00000562465.5:c.190A>C	ENSP00000454246.1:p.Ser64Arg
NM_138477.2:c.2197A>C	NP_612486.2:p.Ser733Arg
XM_005254176.3:c.2200A>C	XP_005254233.1:p.Ser734Arg
XM_011521270.1:c.2224A>C	XP_011519572.1:p.Ser742Arg
XM_011521271.1:c.2221A>C	XP_011519573.1:p.Ser741Arg
XM_011521272.1:c.2224A>C	XP_011519574.1:p.Ser742Arg
XM_011521273.1:c.2224A>C	XP_011519575.1:p.Ser742Arg
XM_011521274.1:c.1189A>C	XP_011519576.1:p.Ser397Arg
XM_011521275.1:c.1441A>C	XP_011519577.1:p.Ser481Arg
XR_931757.1:n.2197A>C
NM_138477.4:c.2197A>C MANE Select	NP_612486.2:p.Ser733Arg
XM_005254176.5:c.2200A>C	XP_005254233.1:p.Ser734Arg
XM_011521270.2:c.2224A>C	XP_011519572.1:p.Ser742Arg
XM_011521271.2:c.2221A>C	XP_011519573.1:p.Ser741Arg
XM_011521274.2:c.1189A>C	XP_011519576.1:p.Ser397Arg
XR_001751104.1:n.2254A>C
XR_001751105.1:n.2254A>C
XR_931757.2:n.2217A>C