Canonical Allele Identifier: CA425598785

Gene: CAD

Linked Data

• ClinVar Variation Id: 2121932
• ClinVar RCV Id: RCV003049406
• dbSNP Id: rs1475870765
• gnomAD v3: 2-27232213-T-C
• gnomAD v4: 2-27232213-T-C
• MyVariant Identifiers: chr2:g.27455081T>C (hg19) ; chr2:g.27232213T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232213T>C , CM000664.2:g.27232213T>C	GRCh38
NC_000002.11:g.27455081T>C , CM000664.1:g.27455081T>C	GRCh37
NC_000002.10:g.27308585T>C	NCBI36
NG_046394.1:g.19824T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2634T>C MANE Select	ENSP00000264705.3:p.Leu878=
ENST00000264705.8:c.2634T>C	ENSP00000264705.3:p.Leu878=
ENST00000403525.5:c.2445T>C	ENSP00000384510.1:p.Leu815=
ENST00000464159.1:n.382T>C
NM_001306079.1:c.2445T>C	NP_001293008.1:p.Leu815=
NM_004341.3:c.2634T>C	NP_004332.2:p.Leu878=
NM_004341.4:c.2634T>C	NP_004332.2:p.Leu878=
XM_005264555.2:c.2634T>C	XP_005264612.1:p.Leu878=
XM_005264556.2:c.2634T>C	XP_005264613.1:p.Leu878=
XM_005264557.2:c.2634T>C	XP_005264614.1:p.Leu878=
XM_006712101.1:c.2445T>C	XP_006712164.1:p.Leu815=
XM_006712101.3:c.2445T>C	XP_006712164.1:p.Leu815=
XM_024453131.1:c.360T>C	XP_024308899.1:p.Leu120=
NM_004341.5:c.2634T>C MANE Select	NP_004332.2:p.Leu878=
NM_001306079.2:c.2445T>C	NP_001293008.1:p.Leu815=