Canonical Allele Identifier: CA44507352

Gene: CAD

Linked Data

• dbSNP Id: rs934075073
• gnomAD v2: 2-27455241-C-A
• gnomAD v3: 2-27232373-C-A
• gnomAD v4: 2-27232373-C-A
• MyVariant Identifiers: chr2:g.27455241C>A (hg19) ; chr2:g.27232373C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232373C>A , CM000664.2:g.27232373C>A	GRCh38
NC_000002.11:g.27455241C>A , CM000664.1:g.27455241C>A	GRCh37
NC_000002.10:g.27308745C>A	NCBI36
NG_046394.1:g.19984C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2646-75C>A MANE Select	ENSP00000264705.3:n.2646-75C>A
ENST00000264705.8:c.2646-75C>A	ENSP00000264705.3:n.2646-75C>A
ENST00000403525.5:c.2457-75C>A	ENSP00000384510.1:n.2457-75C>A
ENST00000464159.1:n.394-75C>A
NM_001306079.1:c.2457-75C>A	NP_001293008.1:n.2457-75C>A
NM_004341.3:c.2646-75C>A	NP_004332.2:n.2646-75C>A
NM_004341.4:c.2646-75C>A	NP_004332.2:n.2646-75C>A
XM_005264555.2:c.2646-75C>A	XP_005264612.1:n.2646-75C>A
XM_005264556.2:c.2646-75C>A	XP_005264613.1:n.2646-75C>A
XM_005264557.2:c.2646-75C>A	XP_005264614.1:n.2646-75C>A
XM_006712101.1:c.2457-75C>A	XP_006712164.1:n.2457-75C>A
XM_006712101.3:c.2457-75C>A	XP_006712164.1:n.2457-75C>A
XM_024453131.1:c.372-75C>A	XP_024308899.1:n.372-75C>A
NM_004341.5:c.2646-75C>A MANE Select	NP_004332.2:n.2646-75C>A
NM_001306079.2:c.2457-75C>A	NP_001293008.1:n.2457-75C>A