Canonical Allele Identifier: CA161120796
Community Standard Title: NM_000722.4(CACNA2D1):c.1796+8A>G
Gene: CACNA2D1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.81991177T>C , CM000669.2:g.81991177T>C GRCh38
NC_000007.13:g.81620493T>C , CM000669.1:g.81620493T>C GRCh37
NC_000007.12:g.81458429T>C NCBI36
NG_009358.2:g.457539A>G , LRG_437:g.457539A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000722.4:c.1796+8A>G MANE Select NP_000713.2:n.1796+8A>G
ENST00000356860.8:c.1796+8A>G MANE Select ENSP00000349320.3:n.1796+8A>G
NM_000722.3:c.1796+8A>G NP_000713.2:n.1796+8A>G
NM_001366867.1:c.1853+8A>G NP_001353796.1:n.1853+8A>G
ENST00000356253.9:c.1853+8A>G ENSP00000348589.5:n.1853+8A>G
ENST00000356860.7:c.1796+8A>G ENSP00000349320.3:n.1796+8A>G
ENST00000443883.1:c.349+8A>G
ENST00000443883.2:c.1853+8A>G ENSP00000409374.2:n.1853+8A>G
ENST00000705961.1:c.1563+8A>G
ENST00000705962.1:c.1697+8A>G ENSP00000516190.1:n.1697+8A>G
XM_005250570.1:c.1853+8A>G XP_005250627.1:n.1853+8A>G
XM_005250572.1:c.1781+8A>G XP_005250629.1:n.1781+8A>G
XM_005250572.3:c.1781+8A>G XP_005250629.1:n.1781+8A>G
XM_005250573.1:c.1796+8A>G XP_005250630.1:n.1796+8A>G
XM_005250573.3:c.1796+8A>G XP_005250630.1:n.1796+8A>G
XM_005250574.1:c.1781+8A>G XP_005250631.1:n.1781+8A>G
XM_005250574.3:c.1781+8A>G XP_005250631.1:n.1781+8A>G
XM_006716118.1:c.1853+8A>G XP_006716181.1:n.1853+8A>G
XM_006716118.3:c.1853+8A>G XP_006716181.1:n.1853+8A>G
XM_006716119.2:c.1778+8A>G XP_006716182.1:n.1778+8A>G
XM_006716119.3:c.1778+8A>G XP_006716182.1:n.1778+8A>G
XM_006716120.2:c.1736+8A>G XP_006716183.1:n.1736+8A>G
XM_006716120.3:c.1736+8A>G XP_006716183.1:n.1736+8A>G
XM_006716121.2:c.263+8A>G XP_006716184.1:n.263+8A>G
XM_006716121.3:c.263+8A>G XP_006716184.1:n.263+8A>G
XM_011516570.1:c.1853+8A>G XP_011514872.1:n.1853+8A>G
XM_011516570.3:c.1853+8A>G XP_011514872.1:n.1853+8A>G
XM_011516571.1:c.1838+8A>G XP_011514873.1:n.1838+8A>G
XM_011516571.3:c.1838+8A>G XP_011514873.1:n.1838+8A>G
XM_011516572.1:c.1838+8A>G XP_011514874.1:n.1838+8A>G
XM_011516572.3:c.1838+8A>G XP_011514874.1:n.1838+8A>G
XM_011516573.1:c.1622+8A>G XP_011514875.1:n.1622+8A>G
XM_017012588.1:c.1679+8A>G XP_016868077.1:n.1679+8A>G
XR_001744873.2:n.1873+8A>G
XR_001744874.2:n.1801+8A>G