Canonical Allele Identifier: CA641903003

Gene: CACNA1F

Linked Data

• dbSNP Id: rs1557108037
• gnomAD v2: X-49075065-T-A
• gnomAD v4: X-49218606-T-A
• MyVariant Identifiers: chrX:g.49075065T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218606T>A , CM000685.2:g.49218606T>A	GRCh38
NC_000023.10:g.49075065T>A , CM000685.1:g.49075065T>A	GRCh37
NC_000023.9:g.48962009T>A	NCBI36
NG_009095.2:g.19761A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2840+23A>T MANE Select	ENSP00000321618.6:n.2840+23A>T
ENST00000323022.9:c.2840+23A>T	ENSP00000321618.5:n.2840+23A>T
ENST00000376251.5:c.2678+23A>T	ENSP00000365427.1:n.2678+23A>T
ENST00000376265.2:c.2873+23A>T	ENSP00000365441.2:n.2873+23A>T
NM_001256789.2:c.2840+23A>T	NP_001243718.1:n.2840+23A>T
NM_001256790.2:c.2678+23A>T	NP_001243719.1:n.2678+23A>T
NM_005183.3:c.2873+23A>T	NP_005174.2:n.2873+23A>T
XM_011543983.1:c.2678+23A>T	XP_011542285.1:n.2678+23A>T
XM_011543983.2:c.2678+23A>T	XP_011542285.1:n.2678+23A>T
XM_017029836.1:c.107+23A>T	XP_016885325.1:n.107+23A>T
NM_001256789.3:c.2840+23A>T MANE Select	NP_001243718.1:n.2840+23A>T
NM_001256790.3:c.2678+23A>T	NP_001243719.1:n.2678+23A>T
NM_005183.4:c.2873+23A>T	NP_005174.2:n.2873+23A>T