Canonical Allele Identifier: CA44507179

Gene: CAD

Linked Data

• dbSNP Id: rs999877058
• gnomAD v2: 2-27454969-A-G
• gnomAD v3: 2-27232101-A-G
• gnomAD v4: 2-27232101-A-G
• MyVariant Identifiers: chr2:g.27454969A>G (hg19) ; chr2:g.27232101A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232101A>G , CM000664.2:g.27232101A>G	GRCh38
NC_000002.11:g.27454969A>G , CM000664.1:g.27454969A>G	GRCh37
NC_000002.10:g.27308473A>G	NCBI36
NG_046394.1:g.19712A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264705.9:c.2522A>G MANE Select	ENSP00000264705.3:p.Lys841Arg
ENST00000264705.8:c.2522A>G	ENSP00000264705.3:p.Lys841Arg
ENST00000403525.5:c.2333A>G	ENSP00000384510.1:p.Lys778Arg
ENST00000464159.1:n.270A>G
NM_001306079.1:c.2333A>G	NP_001293008.1:p.Lys778Arg
NM_004341.3:c.2522A>G	NP_004332.2:p.Lys841Arg
NM_004341.4:c.2522A>G	NP_004332.2:p.Lys841Arg
XM_005264555.2:c.2522A>G	XP_005264612.1:p.Lys841Arg
XM_005264556.2:c.2522A>G	XP_005264613.1:p.Lys841Arg
XM_005264557.2:c.2522A>G	XP_005264614.1:p.Lys841Arg
XM_006712101.1:c.2333A>G	XP_006712164.1:p.Lys778Arg
XM_006712101.3:c.2333A>G	XP_006712164.1:p.Lys778Arg
XM_024453131.1:c.248A>G	XP_024308899.1:p.Lys83Arg
NM_004341.5:c.2522A>G MANE Select	NP_004332.2:p.Lys841Arg
NM_001306079.2:c.2333A>G	NP_001293008.1:p.Lys778Arg