Canonical Allele Identifier: CA44507293

Gene: CAD

Linked Data

• dbSNP Id: rs758833573
• gnomAD v4: 2-27232216-A-G
• MyVariant Identifiers: chr2:g.27455084A>G (hg19) ; chr2:g.27232216A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232216A>G , CM000664.2:g.27232216A>G	GRCh38
NC_000002.11:g.27455084A>G , CM000664.1:g.27455084A>G	GRCh37
NC_000002.10:g.27308588A>G	NCBI36
NG_046394.1:g.19827A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2637A>G MANE Select	ENSP00000264705.3:p.Ala879=
ENST00000264705.8:c.2637A>G	ENSP00000264705.3:p.Ala879=
ENST00000403525.5:c.2448A>G	ENSP00000384510.1:p.Ala816=
ENST00000464159.1:n.385A>G
NM_001306079.1:c.2448A>G	NP_001293008.1:p.Ala816=
NM_004341.3:c.2637A>G	NP_004332.2:p.Ala879=
NM_004341.4:c.2637A>G	NP_004332.2:p.Ala879=
XM_005264555.2:c.2637A>G	XP_005264612.1:p.Ala879=
XM_005264556.2:c.2637A>G	XP_005264613.1:p.Ala879=
XM_005264557.2:c.2637A>G	XP_005264614.1:p.Ala879=
XM_006712101.1:c.2448A>G	XP_006712164.1:p.Ala816=
XM_006712101.3:c.2448A>G	XP_006712164.1:p.Ala816=
XM_024453131.1:c.363A>G	XP_024308899.1:p.Ala121=
NM_004341.5:c.2637A>G MANE Select	NP_004332.2:p.Ala879=
NM_001306079.2:c.2448A>G	NP_001293008.1:p.Ala816=