Canonical Allele Identifier: CA1365489874

Gene: CACNA1D CHDH

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53813035G>T , CM000665.2:g.53813035G>T	GRCh38
NC_000003.11:g.53847062G>T , CM000665.1:g.53847062G>T	GRCh37
NC_000003.10:g.53822102G>T	NCBI36
NG_032999.1:g.322987G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636581.2:n.3504G>T (CACNA1D)
ENST00000636633.2:n.5114G>T (CACNA1D)
ENST00000636999.2:n.3550G>T (CACNA1D)
ENST00000288139.11:c.*1629G>T (CACNA1D) MANE Plus Clinical	ENSP00000288139.3:n.*1629G>T
ENST00000315251.11:c.*4742C>A (CHDH) MANE Select	ENSP00000319851.5:n.*4742C>A
ENST00000350061.11:c.*1629G>T (CACNA1D) MANE Select	ENSP00000288133.5:n.*1629G>T
ENST00000636999.1:n.3542G>T (CACNA1D)
ENST00000288139.8:c.*1629G>T (CACNA1D)	ENSP00000288139.3:n.*1629G>T
ENST00000315251.10:c.*4742C>A (CHDH)	ENSP00000319851.5:n.*4742C>A
XM_005265448.2:c.*1629G>T (CACNA1D)	XP_005265505.1:n.*1629G>T
XM_011534094.1:c.*1629G>T (CACNA1D)	XP_011532396.1:n.*1629G>T
XM_011534095.1:c.*1629G>T (CACNA1D)	XP_011532397.1:n.*1629G>T
XM_011534096.1:c.*1629G>T (CACNA1D)	XP_011532398.1:n.*1629G>T
XM_011534097.1:c.*1629G>T (CACNA1D)	XP_011532399.1:n.*1629G>T
XM_011534098.1:c.*1629G>T (CACNA1D)	XP_011532400.1:n.*1629G>T
XM_011534099.1:c.*1629G>T (CACNA1D)	XP_011532401.1:n.*1629G>T
XM_011534100.1:c.*1629G>T (CACNA1D)	XP_011532402.1:n.*1629G>T
XM_011534094.2:c.*1629G>T (CACNA1D)	XP_011532396.1:n.*1629G>T
XM_011534097.2:c.*1629G>T (CACNA1D)	XP_011532399.1:n.*1629G>T
XM_011534099.2:c.*1629G>T (CACNA1D)	XP_011532401.1:n.*1629G>T
XM_011534100.2:c.*1629G>T (CACNA1D)	XP_011532402.1:n.*1629G>T
XM_017007137.1:c.*1629G>T (CACNA1D)	XP_016862626.1:n.*1629G>T
XM_017007138.1:c.*1629G>T (CACNA1D)	XP_016862627.1:n.*1629G>T
XM_017007139.1:c.*1629G>T (CACNA1D)	XP_016862628.1:n.*1629G>T
XM_017007140.1:c.*1629G>T (CACNA1D)	XP_016862629.1:n.*1629G>T
XM_017007141.1:c.*1629G>T (CACNA1D)	XP_016862630.1:n.*1629G>T
XM_017007142.1:c.*1629G>T (CACNA1D)	XP_016862631.1:n.*1629G>T
XM_017007143.1:c.*1629G>T (CACNA1D)	XP_016862632.1:n.*1629G>T
XM_017007145.1:c.*1629G>T (CACNA1D)	XP_016862634.1:n.*1629G>T
XR_002959545.1:n.4371C>A (CHDH)
NM_001128840.3:c.*1629G>T (CACNA1D) MANE Select	NP_001122312.1:n.*1629G>T
NM_018397.5:c.*4742C>A (CHDH) MANE Select	NP_060867.2:n.*4742C>A
NM_000720.4:c.*1629G>T (CACNA1D) MANE Plus Clinical	NP_000711.1:n.*1629G>T
NM_001128839.3:c.*1629G>T (CACNA1D)	NP_001122311.1:n.*1629G>T