Canonical Allele Identifier: CA346211353

Gene: CAD

Linked Data

• ClinVar Variation Id: 1380672
• ClinVar RCV Id: RCV001895003
• dbSNP Id: rs756915889
• gnomAD v4: 2-27232047-T-C
• MyVariant Identifiers: chr2:g.27454915T>C (hg19) ; chr2:g.27232047T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232047T>C , CM000664.2:g.27232047T>C	GRCh38
NC_000002.11:g.27454915T>C , CM000664.1:g.27454915T>C	GRCh37
NC_000002.10:g.27308419T>C	NCBI36
NG_046394.1:g.19658T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2468T>C MANE Select	ENSP00000264705.3:p.Val823Ala
ENST00000264705.8:c.2468T>C	ENSP00000264705.3:p.Val823Ala
ENST00000403525.5:c.2279T>C	ENSP00000384510.1:p.Val760Ala
ENST00000464159.1:n.216T>C
NM_001306079.1:c.2279T>C	NP_001293008.1:p.Val760Ala
NM_004341.3:c.2468T>C	NP_004332.2:p.Val823Ala
NM_004341.4:c.2468T>C	NP_004332.2:p.Val823Ala
XM_005264555.2:c.2468T>C	XP_005264612.1:p.Val823Ala
XM_005264556.2:c.2468T>C	XP_005264613.1:p.Val823Ala
XM_005264557.2:c.2468T>C	XP_005264614.1:p.Val823Ala
XM_006712101.1:c.2279T>C	XP_006712164.1:p.Val760Ala
XM_006712101.3:c.2279T>C	XP_006712164.1:p.Val760Ala
XM_024453131.1:c.194T>C	XP_024308899.1:p.Val65Ala
NM_004341.5:c.2468T>C MANE Select	NP_004332.2:p.Val823Ala
NM_001306079.2:c.2279T>C	NP_001293008.1:p.Val760Ala