Canonical Allele Identifier: CA346211348

Gene: CAD

Linked Data

• gnomAD v4: 2-27232046-G-C
• COSMIC: COSM73990
• MyVariant Identifiers: chr2:g.27454914G>C (hg19) ; chr2:g.27232046G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27232046G>C , CM000664.2:g.27232046G>C	GRCh38
NC_000002.11:g.27454914G>C , CM000664.1:g.27454914G>C	GRCh37
NC_000002.10:g.27308418G>C	NCBI36
NG_046394.1:g.19657G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264705.9:c.2467G>C MANE Select	ENSP00000264705.3:p.Val823Leu
ENST00000264705.8:c.2467G>C	ENSP00000264705.3:p.Val823Leu
ENST00000403525.5:c.2278G>C	ENSP00000384510.1:p.Val760Leu
ENST00000464159.1:n.215G>C
NM_001306079.1:c.2278G>C	NP_001293008.1:p.Val760Leu
NM_004341.3:c.2467G>C	NP_004332.2:p.Val823Leu
NM_004341.4:c.2467G>C	NP_004332.2:p.Val823Leu
XM_005264555.2:c.2467G>C	XP_005264612.1:p.Val823Leu
XM_005264556.2:c.2467G>C	XP_005264613.1:p.Val823Leu
XM_005264557.2:c.2467G>C	XP_005264614.1:p.Val823Leu
XM_006712101.1:c.2278G>C	XP_006712164.1:p.Val760Leu
XM_006712101.3:c.2278G>C	XP_006712164.1:p.Val760Leu
XM_024453131.1:c.193G>C	XP_024308899.1:p.Val65Leu
NM_004341.5:c.2467G>C MANE Select	NP_004332.2:p.Val823Leu
NM_001306079.2:c.2278G>C	NP_001293008.1:p.Val760Leu