Canonical Allele Identifier: CA1573039

Gene: CAD

Linked Data

• ClinVar Variation Id: 1445864
• ClinVar RCV Id: RCV001992687 ; RCV002563452
• dbSNP Id: rs199908899
• ExAC: 2:27454972 G / A
• gnomAD v2: 2-27454972-G-A
• gnomAD v3: 2-27232104-G-A
• gnomAD v4: 2-27232104-G-A
• MyVariant Identifiers: chr2:g.27454972G>A (hg19) ; chr2:g.27232104G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232104G>A , CM000664.2:g.27232104G>A	GRCh38
NC_000002.11:g.27454972G>A , CM000664.1:g.27454972G>A	GRCh37
NC_000002.10:g.27308476G>A	NCBI36
NG_046394.1:g.19715G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264705.9:c.2525G>A MANE Select	ENSP00000264705.3:p.Arg842His
ENST00000264705.8:c.2525G>A	ENSP00000264705.3:p.Arg842His
ENST00000403525.5:c.2336G>A	ENSP00000384510.1:p.Arg779His
ENST00000464159.1:n.273G>A
NM_001306079.1:c.2336G>A	NP_001293008.1:p.Arg779His
NM_004341.3:c.2525G>A	NP_004332.2:p.Arg842His
NM_004341.4:c.2525G>A	NP_004332.2:p.Arg842His
XM_005264555.2:c.2525G>A	XP_005264612.1:p.Arg842His
XM_005264556.2:c.2525G>A	XP_005264613.1:p.Arg842His
XM_005264557.2:c.2525G>A	XP_005264614.1:p.Arg842His
XM_006712101.1:c.2336G>A	XP_006712164.1:p.Arg779His
XM_006712101.3:c.2336G>A	XP_006712164.1:p.Arg779His
XM_024453131.1:c.251G>A	XP_024308899.1:p.Arg84His
NM_004341.5:c.2525G>A MANE Select	NP_004332.2:p.Arg842His
NM_001306079.2:c.2336G>A	NP_001293008.1:p.Arg779His