Canonical Allele Identifier: CA412964553

Gene: CACNA1F

Linked Data

• gnomAD v4: X-49218004-T-C
• MyVariant Identifiers: chrX:g.49074463T>C (hg19) ; chrX:g.49218004T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218004T>C , CM000685.2:g.49218004T>C	GRCh38
NC_000023.10:g.49074463T>C , CM000685.1:g.49074463T>C	GRCh37
NC_000023.9:g.48961407T>C	NCBI36
NG_009095.2:g.20363A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2930A>G MANE Select	ENSP00000321618.6:p.His977Arg
ENST00000323022.9:c.2930A>G	ENSP00000321618.5:p.His977Arg
ENST00000376251.5:c.2768A>G	ENSP00000365427.1:p.His923Arg
ENST00000376265.2:c.2963A>G	ENSP00000365441.2:p.His988Arg
NM_001256789.2:c.2930A>G	NP_001243718.1:p.His977Arg
NM_001256790.2:c.2768A>G	NP_001243719.1:p.His923Arg
NM_005183.3:c.2963A>G	NP_005174.2:p.His988Arg
XM_011543983.1:c.2768A>G	XP_011542285.1:p.His923Arg
XM_011543983.2:c.2768A>G	XP_011542285.1:p.His923Arg
XM_017029836.1:c.197A>G	XP_016885325.1:p.His66Arg
NM_001256789.3:c.2930A>G MANE Select	NP_001243718.1:p.His977Arg
NM_001256790.3:c.2768A>G	NP_001243719.1:p.His923Arg
NM_005183.4:c.2963A>G	NP_005174.2:p.His988Arg