Canonical Allele Identifier: CA1573863
Gene: CAD HGNC NCBI

Linked Data

ClinVar Variation Id: 422220
dbSNP Id: rs139332887
gnomAD v2: 2-27462599-G-A
gnomAD v3: 2-27239731-G-A
gnomAD v4: 2-27239731-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27239731G>A , CM000664.2:g.27239731G>A GRCh38
NC_000002.11:g.27462599G>A , CM000664.1:g.27462599G>A GRCh37
NC_000002.10:g.27316103G>A NCBI36
NG_046394.1:g.27342G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264705.9:c.5429G>A MANE Select ENSP00000264705.3:p.Arg1810Gln
ENST00000264705.8:c.5429G>A ENSP00000264705.3:p.Arg1810Gln
ENST00000403525.5:c.5240G>A ENSP00000384510.1:p.Arg1747Gln
ENST00000456311.1:c.291G>A
ENST00000487239.5:n.257G>A
ENST00000491461.1:n.176G>A
NM_001306079.1:c.5240G>A NP_001293008.1:p.Arg1747Gln
NM_004341.3:c.5429G>A NP_004332.2:p.Arg1810Gln
NM_004341.4:c.5429G>A NP_004332.2:p.Arg1810Gln
XM_005264555.2:c.5429G>A XP_005264612.1:p.Arg1810Gln
XM_005264556.2:c.5394+260G>A XP_005264613.1:n.5394+260G>A
XM_005264557.2:c.5394+260G>A XP_005264614.1:n.5394+260G>A
XM_006712101.1:c.5240G>A XP_006712164.1:p.Arg1747Gln
XM_006712101.3:c.5240G>A XP_006712164.1:p.Arg1747Gln
XM_024453131.1:c.3155G>A XP_024308899.1:p.Arg1052Gln
NM_004341.5:c.5429G>A MANE Select NP_004332.2:p.Arg1810Gln
NM_001306079.2:c.5240G>A NP_001293008.1:p.Arg1747Gln