Canonical Allele Identifier: CA346211179

Gene: CAD

Linked Data

• MyVariant Identifiers: chr2:g.27454863A>C (hg19) ; chr2:g.27231995A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27231995A>C , CM000664.2:g.27231995A>C	GRCh38
NC_000002.11:g.27454863A>C , CM000664.1:g.27454863A>C	GRCh37
NC_000002.10:g.27308367A>C	NCBI36
NG_046394.1:g.19606A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2416A>C MANE Select	ENSP00000264705.3:p.Thr806Pro
ENST00000264705.8:c.2416A>C	ENSP00000264705.3:p.Thr806Pro
ENST00000403525.5:c.2227A>C	ENSP00000384510.1:p.Thr743Pro
ENST00000464159.1:n.164A>C
NM_001306079.1:c.2227A>C	NP_001293008.1:p.Thr743Pro
NM_004341.3:c.2416A>C	NP_004332.2:p.Thr806Pro
NM_004341.4:c.2416A>C	NP_004332.2:p.Thr806Pro
XM_005264555.2:c.2416A>C	XP_005264612.1:p.Thr806Pro
XM_005264556.2:c.2416A>C	XP_005264613.1:p.Thr806Pro
XM_005264557.2:c.2416A>C	XP_005264614.1:p.Thr806Pro
XM_006712101.1:c.2227A>C	XP_006712164.1:p.Thr743Pro
XM_006712101.3:c.2227A>C	XP_006712164.1:p.Thr743Pro
XM_024453131.1:c.142A>C	XP_024308899.1:p.Thr48Pro
NM_004341.5:c.2416A>C MANE Select	NP_004332.2:p.Thr806Pro
NM_001306079.2:c.2227A>C	NP_001293008.1:p.Thr743Pro