Canonical Allele Identifier: CA412964554

Gene: CACNA1F

Linked Data

• dbSNP Id: rs1557107842
• gnomAD v2: X-49074464-G-A
• gnomAD v4: X-49218005-G-A
• MyVariant Identifiers: chrX:g.49074464G>A (hg19) ; chrX:g.49218005G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218005G>A , CM000685.2:g.49218005G>A	GRCh38
NC_000023.10:g.49074464G>A , CM000685.1:g.49074464G>A	GRCh37
NC_000023.9:g.48961408G>A	NCBI36
NG_009095.2:g.20362C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2929C>T MANE Select	ENSP00000321618.6:p.His977Tyr
ENST00000323022.9:c.2929C>T	ENSP00000321618.5:p.His977Tyr
ENST00000376251.5:c.2767C>T	ENSP00000365427.1:p.His923Tyr
ENST00000376265.2:c.2962C>T	ENSP00000365441.2:p.His988Tyr
NM_001256789.2:c.2929C>T	NP_001243718.1:p.His977Tyr
NM_001256790.2:c.2767C>T	NP_001243719.1:p.His923Tyr
NM_005183.3:c.2962C>T	NP_005174.2:p.His988Tyr
XM_011543983.1:c.2767C>T	XP_011542285.1:p.His923Tyr
XM_011543983.2:c.2767C>T	XP_011542285.1:p.His923Tyr
XM_017029836.1:c.196C>T	XP_016885325.1:p.His66Tyr
NM_001256789.3:c.2929C>T MANE Select	NP_001243718.1:p.His977Tyr
NM_001256790.3:c.2767C>T	NP_001243719.1:p.His923Tyr
NM_005183.4:c.2962C>T	NP_005174.2:p.His988Tyr