Canonical Allele Identifier: CA1365490021

Gene: CACNA1D CHDH

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53813305T= , CM000665.2:g.53813305T=	GRCh38
NC_000003.11:g.53847332T= , CM000665.1:g.53847332T=	GRCh37
NC_000003.10:g.53822372T=	NCBI36
NG_032999.1:g.323257T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636581.2:n.3774T= (CACNA1D)
ENST00000636633.2:n.5384T= (CACNA1D)
ENST00000636999.2:n.3820T= (CACNA1D)
ENST00000288139.11:c.*1899T= (CACNA1D) MANE Plus Clinical	ENSP00000288139.3:n.*1899T=
ENST00000315251.11:c.*4472A= (CHDH) MANE Select	ENSP00000319851.5:n.*4472A=
ENST00000350061.11:c.*1899T= (CACNA1D) MANE Select	ENSP00000288133.5:n.*1899T=
ENST00000636999.1:n.3812T= (CACNA1D)
ENST00000288139.8:c.*1899T= (CACNA1D)	ENSP00000288139.3:n.*1899T=
ENST00000315251.10:c.*4472A= (CHDH)	ENSP00000319851.5:n.*4472A=
XM_006713250.4:c.*4472A= (CHDH)	XP_006713313.1:n.*4472A=
XM_006713251.4:c.*4472A= (CHDH)	XP_006713314.1:n.*4472A=
XM_006713252.4:c.*4884A= (CHDH)	XP_006713315.1:n.*4884A=
XM_011533938.3:c.*4472A= (CHDH)	XP_011532240.1:n.*4472A=
XM_011533939.3:c.*4472A= (CHDH)	XP_011532241.1:n.*4472A=
XM_017006797.2:c.*4472A= (CHDH)	XP_016862286.1:n.*4472A=
XM_017006798.2:c.*4472A= (CHDH)	XP_016862287.1:n.*4472A=
XM_017006799.2:c.*4884A= (CHDH)	XP_016862288.1:n.*4884A=
XR_002959545.1:n.4351-250A= (CHDH)
NM_001128840.3:c.*1899T= (CACNA1D) MANE Select	NP_001122312.1:n.*1899T=
NM_018397.5:c.*4472A= (CHDH) MANE Select	NP_060867.2:n.*4472A=
NM_000720.4:c.*1899T= (CACNA1D) MANE Plus Clinical	NP_000711.1:n.*1899T=
NM_001128839.3:c.*1899T= (CACNA1D)	NP_001122311.1:n.*1899T=