Canonical Allele Identifier: CA2693708630
Gene: CACNA1F HGNC NCBI

Linked Data

gnomAD v4: X-49218415-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49218415C>T , CM000685.2:g.49218415C>T GRCh38
NC_000023.10:g.49074874C>T , CM000685.1:g.49074874C>T GRCh37
NC_000023.9:g.48961818C>T NCBI36
NG_009095.2:g.19952G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000323022.10:c.2928+40G>A MANE Select ENSP00000321618.6:n.2928+40G>A
ENST00000323022.9:c.2928+40G>A ENSP00000321618.5:n.2928+40G>A
ENST00000376251.5:c.2766+40G>A ENSP00000365427.1:n.2766+40G>A
ENST00000376265.2:c.2961+40G>A ENSP00000365441.2:n.2961+40G>A
NM_001256789.2:c.2928+40G>A NP_001243718.1:n.2928+40G>A
NM_001256790.2:c.2766+40G>A NP_001243719.1:n.2766+40G>A
NM_005183.3:c.2961+40G>A NP_005174.2:n.2961+40G>A
XM_011543983.1:c.2766+40G>A XP_011542285.1:n.2766+40G>A
XM_011543983.2:c.2766+40G>A XP_011542285.1:n.2766+40G>A
XM_017029836.1:c.195+40G>A XP_016885325.1:n.195+40G>A
NM_001256789.3:c.2928+40G>A MANE Select NP_001243718.1:n.2928+40G>A
NM_001256790.3:c.2766+40G>A NP_001243719.1:n.2766+40G>A
NM_005183.4:c.2961+40G>A NP_005174.2:n.2961+40G>A
Search 100 bp 5'
Search 100 bp 3'