Canonical Allele Identifier: CA1573079

Gene: CAD

Linked Data

• ClinVar Variation Id: 3022188
• ClinVar RCV Id: RCV003881267
• dbSNP Id: rs201094960
• ExAC: 2:27455301 C / G
• gnomAD v2: 2-27455301-C-G
• gnomAD v3: 2-27232433-C-G
• gnomAD v4: 2-27232433-C-G
• MyVariant Identifiers: chr2:g.27455301C>G (hg19) ; chr2:g.27455301_27455302delinsGT (hg19) ; chr2:g.27232433C>G (hg38) ; chr2:g.27232433_27232434delinsGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232433C>G , CM000664.2:g.27232433C>G	GRCh38
NC_000002.11:g.27455301C>G , CM000664.1:g.27455301C>G	GRCh37
NC_000002.10:g.27308805C>G	NCBI36
NG_046394.1:g.20044C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2646-15C>G MANE Select	ENSP00000264705.3:n.2646-15C>G
ENST00000264705.8:c.2646-15C>G	ENSP00000264705.3:n.2646-15C>G
ENST00000403525.5:c.2457-15C>G	ENSP00000384510.1:n.2457-15C>G
ENST00000464159.1:n.394-15C>G
NM_001306079.1:c.2457-15C>G	NP_001293008.1:n.2457-15C>G
NM_004341.3:c.2646-15C>G	NP_004332.2:n.2646-15C>G
NM_004341.4:c.2646-15C>G	NP_004332.2:n.2646-15C>G
XM_005264555.2:c.2646-15C>G	XP_005264612.1:n.2646-15C>G
XM_005264556.2:c.2646-15C>G	XP_005264613.1:n.2646-15C>G
XM_005264557.2:c.2646-15C>G	XP_005264614.1:n.2646-15C>G
XM_006712101.1:c.2457-15C>G	XP_006712164.1:n.2457-15C>G
XM_006712101.3:c.2457-15C>G	XP_006712164.1:n.2457-15C>G
XM_024453131.1:c.372-15C>G	XP_024308899.1:n.372-15C>G
NM_004341.5:c.2646-15C>G MANE Select	NP_004332.2:n.2646-15C>G
NM_001306079.2:c.2457-15C>G	NP_001293008.1:n.2457-15C>G