Canonical Allele Identifier: CA6541856
Gene: CACNB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48824700A>T , CM000674.2:g.48824700A>T GRCh38
NC_000012.11:g.49218483A>T , CM000674.1:g.49218483A>T GRCh37
NC_000012.10:g.47504750A>T NCBI36
NG_030048.1:g.15269A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000725.4:c.439A>T MANE Select NP_000716.2:p.Ile147Phe
ENST00000301050.7:c.439A>T MANE Select ENSP00000301050.2:p.Ile147Phe
NM_000725.3:c.439A>T NP_000716.2:p.Ile147Phe
NM_001206915.1:c.316A>T NP_001193844.1:p.Ile106Phe
NM_001206915.2:c.316A>T NP_001193844.1:p.Ile106Phe
NM_001206916.1:c.436A>T NP_001193845.1:p.Ile146Phe
NM_001206916.2:c.436A>T NP_001193845.1:p.Ile146Phe
NM_001206917.1:c.400A>T NP_001193846.1:p.Ile134Phe
NM_001206917.2:c.400A>T NP_001193846.1:p.Ile134Phe
ENST00000301050.6:c.439A>T ENSP00000301050.2:p.Ile147Phe
ENST00000536187.6:c.436A>T ENSP00000444160.2:p.Ile146Phe
ENST00000540990.5:c.400A>T ENSP00000445495.1:p.Ile134Phe
ENST00000547230.5:c.316A>T ENSP00000448304.1:p.Ile106Phe
ENST00000547392.5:c.439A>T ENSP00000446529.1:p.Ile147Phe
ENST00000547818.5:c.-70A>T ENSP00000448137.1:n.-70A>T
ENST00000548860.5:n.1562A>T
ENST00000548874.5:c.*2A>T ENSP00000446611.1:n.*2A>T
ENST00000549226.5:n.468A>T
ENST00000550064.5:c.-90A>T ENSP00000448074.1:n.-90A>T
ENST00000550168.5:n.644A>T
ENST00000550190.1:c.144+897A>T ENSP00000447261.1:n.144+897A>T
ENST00000550391.5:c.400A>T ENSP00000449389.1:p.Ile134Phe
ENST00000550483.5:c.173A>T
ENST00000551544.5:c.*632A>T ENSP00000447462.1:n.*632A>T
ENST00000552022.5:n.531A>T
XM_006719592.2:c.439A>T XP_006719655.1:p.Ile147Phe
XM_011538727.1:c.-90A>T XP_011537029.1:n.-90A>T
XM_011538727.3:c.-90A>T XP_011537029.1:n.-90A>T
XM_011538728.1:c.-90A>T XP_011537030.1:n.-90A>T
XM_011538728.2:c.-90A>T XP_011537030.1:n.-90A>T
XM_011538729.1:c.-90A>T XP_011537031.1:n.-90A>T
XM_011538730.1:c.-70A>T XP_011537032.1:n.-70A>T
XM_017019957.1:c.-90A>T XP_016875446.1:n.-90A>T
XM_024449180.1:c.-70A>T XP_024304948.1:n.-70A>T
XM_024449181.1:c.-70A>T XP_024304949.1:n.-70A>T
XR_001748867.1:n.603A>T
XR_001748868.1:n.491A>T