Canonical Allele Identifier: CA2693707862
Gene: CACNA1F HGNC NCBI

Linked Data

gnomAD v4: X-49218025-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49218025T>A , CM000685.2:g.49218025T>A GRCh38
NC_000023.10:g.49074484T>A , CM000685.1:g.49074484T>A GRCh37
NC_000023.9:g.48961428T>A NCBI36
NG_009095.2:g.20342A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.2929-20A>T MANE Select ENSP00000321618.6:n.2929-20A>T
ENST00000323022.9:c.2929-20A>T ENSP00000321618.5:n.2929-20A>T
ENST00000376251.5:c.2767-20A>T ENSP00000365427.1:n.2767-20A>T
ENST00000376265.2:c.2962-20A>T ENSP00000365441.2:n.2962-20A>T
NM_001256789.2:c.2929-20A>T NP_001243718.1:n.2929-20A>T
NM_001256790.2:c.2767-20A>T NP_001243719.1:n.2767-20A>T
NM_005183.3:c.2962-20A>T NP_005174.2:n.2962-20A>T
XM_011543983.1:c.2767-20A>T XP_011542285.1:n.2767-20A>T
XM_011543983.2:c.2767-20A>T XP_011542285.1:n.2767-20A>T
XM_017029836.1:c.196-20A>T XP_016885325.1:n.196-20A>T
NM_001256789.3:c.2929-20A>T MANE Select NP_001243718.1:n.2929-20A>T
NM_001256790.3:c.2767-20A>T NP_001243719.1:n.2767-20A>T
NM_005183.4:c.2962-20A>T NP_005174.2:n.2962-20A>T