Canonical Allele Identifier: CA346211537

Gene: CAD

Linked Data

• gnomAD v4: 2-27232099-G-A
• MyVariant Identifiers: chr2:g.27454967G>A (hg19) ; chr2:g.27232099G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232099G>A , CM000664.2:g.27232099G>A	GRCh38
NC_000002.11:g.27454967G>A , CM000664.1:g.27454967G>A	GRCh37
NC_000002.10:g.27308471G>A	NCBI36
NG_046394.1:g.19710G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264705.9:c.2520G>A MANE Select	ENSP00000264705.3:p.Met840Ile
ENST00000264705.8:c.2520G>A	ENSP00000264705.3:p.Met840Ile
ENST00000403525.5:c.2331G>A	ENSP00000384510.1:p.Met777Ile
ENST00000464159.1:n.268G>A
NM_001306079.1:c.2331G>A	NP_001293008.1:p.Met777Ile
NM_004341.3:c.2520G>A	NP_004332.2:p.Met840Ile
NM_004341.4:c.2520G>A	NP_004332.2:p.Met840Ile
XM_005264555.2:c.2520G>A	XP_005264612.1:p.Met840Ile
XM_005264556.2:c.2520G>A	XP_005264613.1:p.Met840Ile
XM_005264557.2:c.2520G>A	XP_005264614.1:p.Met840Ile
XM_006712101.1:c.2331G>A	XP_006712164.1:p.Met777Ile
XM_006712101.3:c.2331G>A	XP_006712164.1:p.Met777Ile
XM_024453131.1:c.246G>A	XP_024308899.1:p.Met82Ile
NM_004341.5:c.2520G>A MANE Select	NP_004332.2:p.Met840Ile
NM_001306079.2:c.2331G>A	NP_001293008.1:p.Met777Ile