Canonical Allele Identifier: CA10410514
Gene: CACNA1F HGNC NCBI

Linked Data

dbSNP Id: rs782816657
gnomAD v2: X-49072870-T-C
gnomAD v3: X-49216410-T-C
gnomAD v4: X-49216410-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49216410T>C , CM000685.2:g.49216410T>C GRCh38
NC_000023.10:g.49072870T>C , CM000685.1:g.49072870T>C GRCh37
NC_000023.9:g.48959814T>C NCBI36
NG_009095.2:g.21957A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323022.10:c.3208A>G MANE Select ENSP00000321618.6:p.Thr1070Ala
ENST00000323022.9:c.3208A>G ENSP00000321618.5:p.Thr1070Ala
ENST00000376251.5:c.3046A>G ENSP00000365427.1:p.Thr1016Ala
ENST00000376265.2:c.3241A>G ENSP00000365441.2:p.Thr1081Ala
NM_001256789.2:c.3208A>G NP_001243718.1:p.Thr1070Ala
NM_001256790.2:c.3046A>G NP_001243719.1:p.Thr1016Ala
NM_005183.3:c.3241A>G NP_005174.2:p.Thr1081Ala
XM_011543983.1:c.3046A>G XP_011542285.1:p.Thr1016Ala
XM_011543983.2:c.3046A>G XP_011542285.1:p.Thr1016Ala
XM_017029836.1:c.475A>G XP_016885325.1:p.Thr159Ala
NM_001256789.3:c.3208A>G MANE Select NP_001243718.1:p.Thr1070Ala
NM_001256790.3:c.3046A>G NP_001243719.1:p.Thr1016Ala
NM_005183.4:c.3241A>G NP_005174.2:p.Thr1081Ala