Canonical Allele Identifier: CA346211163

Gene: CAD

Linked Data

• ClinVar Variation Id: 2125232
• ClinVar RCV Id: RCV003040011
• MyVariant Identifiers: chr2:g.27454857A>G (hg19) ; chr2:g.27231989A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27231989A>G , CM000664.2:g.27231989A>G	GRCh38
NC_000002.11:g.27454857A>G , CM000664.1:g.27454857A>G	GRCh37
NC_000002.10:g.27308361A>G	NCBI36
NG_046394.1:g.19600A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2410A>G MANE Select	ENSP00000264705.3:p.Thr804Ala
ENST00000264705.8:c.2410A>G	ENSP00000264705.3:p.Thr804Ala
ENST00000403525.5:c.2221A>G	ENSP00000384510.1:p.Thr741Ala
ENST00000464159.1:n.158A>G
NM_001306079.1:c.2221A>G	NP_001293008.1:p.Thr741Ala
NM_004341.3:c.2410A>G	NP_004332.2:p.Thr804Ala
NM_004341.4:c.2410A>G	NP_004332.2:p.Thr804Ala
XM_005264555.2:c.2410A>G	XP_005264612.1:p.Thr804Ala
XM_005264556.2:c.2410A>G	XP_005264613.1:p.Thr804Ala
XM_005264557.2:c.2410A>G	XP_005264614.1:p.Thr804Ala
XM_006712101.1:c.2221A>G	XP_006712164.1:p.Thr741Ala
XM_006712101.3:c.2221A>G	XP_006712164.1:p.Thr741Ala
XM_024453131.1:c.136A>G	XP_024308899.1:p.Thr46Ala
NM_004341.5:c.2410A>G MANE Select	NP_004332.2:p.Thr804Ala
NM_001306079.2:c.2221A>G	NP_001293008.1:p.Thr741Ala