Canonical Allele Identifier: CA44507322

Gene: CAD

Linked Data

• dbSNP Id: rs1024528759
• gnomAD v4: 2-27232290-A-C
• MyVariant Identifiers: chr2:g.27455158A>C (hg19) ; chr2:g.27232290A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232290A>C , CM000664.2:g.27232290A>C	GRCh38
NC_000002.11:g.27455158A>C , CM000664.1:g.27455158A>C	GRCh37
NC_000002.10:g.27308662A>C	NCBI36
NG_046394.1:g.19901A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2645+66A>C MANE Select	ENSP00000264705.3:n.2645+66A>C
ENST00000264705.8:c.2645+66A>C	ENSP00000264705.3:n.2645+66A>C
ENST00000403525.5:c.2456+66A>C	ENSP00000384510.1:n.2456+66A>C
ENST00000464159.1:n.393+66A>C
NM_001306079.1:c.2456+66A>C	NP_001293008.1:n.2456+66A>C
NM_004341.3:c.2645+66A>C	NP_004332.2:n.2645+66A>C
NM_004341.4:c.2645+66A>C	NP_004332.2:n.2645+66A>C
XM_005264555.2:c.2645+66A>C	XP_005264612.1:n.2645+66A>C
XM_005264556.2:c.2645+66A>C	XP_005264613.1:n.2645+66A>C
XM_005264557.2:c.2645+66A>C	XP_005264614.1:n.2645+66A>C
XM_006712101.1:c.2456+66A>C	XP_006712164.1:n.2456+66A>C
XM_006712101.3:c.2456+66A>C	XP_006712164.1:n.2456+66A>C
XM_024453131.1:c.371+66A>C	XP_024308899.1:n.371+66A>C
NM_004341.5:c.2645+66A>C MANE Select	NP_004332.2:n.2645+66A>C
NM_001306079.2:c.2456+66A>C	NP_001293008.1:n.2456+66A>C