Canonical Allele Identifier: CA44506904

Gene: CAD

Linked Data

• dbSNP Id: rs752850740
• gnomAD v2: 2-27454629-G-A
• gnomAD v3: 2-27231761-G-A
• gnomAD v4: 2-27231761-G-A
• MyVariant Identifiers: chr2:g.27454629G>A (hg19) ; chr2:g.27231761G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27231761G>A , CM000664.2:g.27231761G>A	GRCh38
NC_000002.11:g.27454629G>A , CM000664.1:g.27454629G>A	GRCh37
NC_000002.10:g.27308133G>A	NCBI36
NG_046394.1:g.19372G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2400+181G>A MANE Select	ENSP00000264705.3:n.2400+181G>A
ENST00000264705.8:c.2400+181G>A	ENSP00000264705.3:n.2400+181G>A
ENST00000403525.5:c.2211+181G>A	ENSP00000384510.1:n.2211+181G>A
ENST00000464159.1:n.148+181G>A
NM_001306079.1:c.2211+181G>A	NP_001293008.1:n.2211+181G>A
NM_004341.3:c.2400+181G>A	NP_004332.2:n.2400+181G>A
NM_004341.4:c.2400+181G>A	NP_004332.2:n.2400+181G>A
XM_005264555.2:c.2400+181G>A	XP_005264612.1:n.2400+181G>A
XM_005264556.2:c.2400+181G>A	XP_005264613.1:n.2400+181G>A
XM_005264557.2:c.2400+181G>A	XP_005264614.1:n.2400+181G>A
XM_006712101.1:c.2211+181G>A	XP_006712164.1:n.2211+181G>A
XM_006712101.3:c.2211+181G>A	XP_006712164.1:n.2211+181G>A
XM_024453131.1:c.126+181G>A	XP_024308899.1:n.126+181G>A
NM_004341.5:c.2400+181G>A MANE Select	NP_004332.2:n.2400+181G>A
NM_001306079.2:c.2211+181G>A	NP_001293008.1:n.2211+181G>A