Canonical Allele Identifier: CA346211555

Gene: CAD

Linked Data

• ClinVar Variation Id: 2164820
• ClinVar RCV Id: RCV003088229
• dbSNP Id: rs1675789925
• gnomAD v4: 2-27232103-C-T
• MyVariant Identifiers: chr2:g.27454971C>T (hg19) ; chr2:g.27232103C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232103C>T , CM000664.2:g.27232103C>T	GRCh38
NC_000002.11:g.27454971C>T , CM000664.1:g.27454971C>T	GRCh37
NC_000002.10:g.27308475C>T	NCBI36
NG_046394.1:g.19714C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264705.9:c.2524C>T MANE Select	ENSP00000264705.3:p.Arg842Cys
ENST00000264705.8:c.2524C>T	ENSP00000264705.3:p.Arg842Cys
ENST00000403525.5:c.2335C>T	ENSP00000384510.1:p.Arg779Cys
ENST00000464159.1:n.272C>T
NM_001306079.1:c.2335C>T	NP_001293008.1:p.Arg779Cys
NM_004341.3:c.2524C>T	NP_004332.2:p.Arg842Cys
NM_004341.4:c.2524C>T	NP_004332.2:p.Arg842Cys
XM_005264555.2:c.2524C>T	XP_005264612.1:p.Arg842Cys
XM_005264556.2:c.2524C>T	XP_005264613.1:p.Arg842Cys
XM_005264557.2:c.2524C>T	XP_005264614.1:p.Arg842Cys
XM_006712101.1:c.2335C>T	XP_006712164.1:p.Arg779Cys
XM_006712101.3:c.2335C>T	XP_006712164.1:p.Arg779Cys
XM_024453131.1:c.250C>T	XP_024308899.1:p.Arg84Cys
NM_004341.5:c.2524C>T MANE Select	NP_004332.2:p.Arg842Cys
NM_001306079.2:c.2335C>T	NP_001293008.1:p.Arg779Cys