Canonical Allele Identifier: CA1573053

Gene: CAD

Linked Data

• dbSNP Id: rs769690896
• ExAC: 2:27455075 T / G
• gnomAD v2: 2-27455075-T-G
• gnomAD v4: 2-27232207-T-G
• MyVariant Identifiers: chr2:g.27455075T>G (hg19) ; chr2:g.27232207T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232207T>G , CM000664.2:g.27232207T>G	GRCh38
NC_000002.11:g.27455075T>G , CM000664.1:g.27455075T>G	GRCh37
NC_000002.10:g.27308579T>G	NCBI36
NG_046394.1:g.19818T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2628T>G MANE Select	ENSP00000264705.3:p.Ile876Met
ENST00000264705.8:c.2628T>G	ENSP00000264705.3:p.Ile876Met
ENST00000403525.5:c.2439T>G	ENSP00000384510.1:p.Ile813Met
ENST00000464159.1:n.376T>G
NM_001306079.1:c.2439T>G	NP_001293008.1:p.Ile813Met
NM_004341.3:c.2628T>G	NP_004332.2:p.Ile876Met
NM_004341.4:c.2628T>G	NP_004332.2:p.Ile876Met
XM_005264555.2:c.2628T>G	XP_005264612.1:p.Ile876Met
XM_005264556.2:c.2628T>G	XP_005264613.1:p.Ile876Met
XM_005264557.2:c.2628T>G	XP_005264614.1:p.Ile876Met
XM_006712101.1:c.2439T>G	XP_006712164.1:p.Ile813Met
XM_006712101.3:c.2439T>G	XP_006712164.1:p.Ile813Met
XM_024453131.1:c.354T>G	XP_024308899.1:p.Ile118Met
NM_004341.5:c.2628T>G MANE Select	NP_004332.2:p.Ile876Met
NM_001306079.2:c.2439T>G	NP_001293008.1:p.Ile813Met