Canonical Allele Identifier: CA412964417
Gene: CACNA1F HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49217941A>G , CM000685.2:g.49217941A>G GRCh38
NC_000023.10:g.49074400A>G , CM000685.1:g.49074400A>G GRCh37
NC_000023.9:g.48961344A>G NCBI36
NG_009095.2:g.20426T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.2993T>C MANE Select ENSP00000321618.6:p.Leu998Pro
ENST00000323022.9:c.2993T>C ENSP00000321618.5:p.Leu998Pro
ENST00000376251.5:c.2831T>C ENSP00000365427.1:p.Leu944Pro
ENST00000376265.2:c.3026T>C ENSP00000365441.2:p.Leu1009Pro
NM_001256789.2:c.2993T>C NP_001243718.1:p.Leu998Pro
NM_001256790.2:c.2831T>C NP_001243719.1:p.Leu944Pro
NM_005183.3:c.3026T>C NP_005174.2:p.Leu1009Pro
XM_011543983.1:c.2831T>C XP_011542285.1:p.Leu944Pro
XM_011543983.2:c.2831T>C XP_011542285.1:p.Leu944Pro
XM_017029836.1:c.260T>C XP_016885325.1:p.Leu87Pro
NM_001256789.3:c.2993T>C MANE Select NP_001243718.1:p.Leu998Pro
NM_001256790.3:c.2831T>C NP_001243719.1:p.Leu944Pro
NM_005183.4:c.3026T>C NP_005174.2:p.Leu1009Pro