Canonical Allele Identifier: CA346211531

Gene: CAD

Linked Data

• dbSNP Id: rs1309405612
• gnomAD v2: 2-27454966-T-C
• gnomAD v3: 2-27232098-T-C
• gnomAD v4: 2-27232098-T-C
• MyVariant Identifiers: chr2:g.27454966T>C (hg19) ; chr2:g.27232098T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232098T>C , CM000664.2:g.27232098T>C	GRCh38
NC_000002.11:g.27454966T>C , CM000664.1:g.27454966T>C	GRCh37
NC_000002.10:g.27308470T>C	NCBI36
NG_046394.1:g.19709T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264705.9:c.2519T>C MANE Select	ENSP00000264705.3:p.Met840Thr
ENST00000264705.8:c.2519T>C	ENSP00000264705.3:p.Met840Thr
ENST00000403525.5:c.2330T>C	ENSP00000384510.1:p.Met777Thr
ENST00000464159.1:n.267T>C
NM_001306079.1:c.2330T>C	NP_001293008.1:p.Met777Thr
NM_004341.3:c.2519T>C	NP_004332.2:p.Met840Thr
NM_004341.4:c.2519T>C	NP_004332.2:p.Met840Thr
XM_005264555.2:c.2519T>C	XP_005264612.1:p.Met840Thr
XM_005264556.2:c.2519T>C	XP_005264613.1:p.Met840Thr
XM_005264557.2:c.2519T>C	XP_005264614.1:p.Met840Thr
XM_006712101.1:c.2330T>C	XP_006712164.1:p.Met777Thr
XM_006712101.3:c.2330T>C	XP_006712164.1:p.Met777Thr
XM_024453131.1:c.245T>C	XP_024308899.1:p.Met82Thr
NM_004341.5:c.2519T>C MANE Select	NP_004332.2:p.Met840Thr
NM_001306079.2:c.2330T>C	NP_001293008.1:p.Met777Thr