Canonical Allele Identifier: CA1573040

Gene: CAD

Linked Data

• ClinVar Variation Id: 1524147
• ClinVar RCV Id: RCV002049076
• dbSNP Id: rs775392905
• ExAC: 2:27454978 T / A
• gnomAD v2: 2-27454978-T-A
• gnomAD v3: 2-27232110-T-A
• gnomAD v4: 2-27232110-T-A
• MyVariant Identifiers: chr2:g.27454978T>A (hg19) ; chr2:g.27232110T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232110T>A , CM000664.2:g.27232110T>A	GRCh38
NC_000002.11:g.27454978T>A , CM000664.1:g.27454978T>A	GRCh37
NC_000002.10:g.27308482T>A	NCBI36
NG_046394.1:g.19721T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264705.9:c.2531T>A MANE Select	ENSP00000264705.3:p.Ile844Asn
ENST00000264705.8:c.2531T>A	ENSP00000264705.3:p.Ile844Asn
ENST00000403525.5:c.2342T>A	ENSP00000384510.1:p.Ile781Asn
ENST00000464159.1:n.279T>A
NM_001306079.1:c.2342T>A	NP_001293008.1:p.Ile781Asn
NM_004341.3:c.2531T>A	NP_004332.2:p.Ile844Asn
NM_004341.4:c.2531T>A	NP_004332.2:p.Ile844Asn
XM_005264555.2:c.2531T>A	XP_005264612.1:p.Ile844Asn
XM_005264556.2:c.2531T>A	XP_005264613.1:p.Ile844Asn
XM_005264557.2:c.2531T>A	XP_005264614.1:p.Ile844Asn
XM_006712101.1:c.2342T>A	XP_006712164.1:p.Ile781Asn
XM_006712101.3:c.2342T>A	XP_006712164.1:p.Ile781Asn
XM_024453131.1:c.257T>A	XP_024308899.1:p.Ile86Asn
NM_004341.5:c.2531T>A MANE Select	NP_004332.2:p.Ile844Asn
NM_001306079.2:c.2342T>A	NP_001293008.1:p.Ile781Asn