Canonical Allele Identifier: CA875949972

Gene: CACNA1F

Linked Data

• dbSNP Id: rs1298398869
• MyVariant Identifiers: chrX:g.49216530del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216530del , CM000685.2:g.49216530del	GRCh38
NC_000023.10:g.49072990del , CM000685.1:g.49072990del	GRCh37
NC_000023.9:g.48959934del	NCBI36
NG_009095.2:g.21837del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3090-2del MANE Select	ENSP00000321618.6:n.3090-2del
ENST00000323022.9:c.3090-2del	ENSP00000321618.5:n.3090-2del
ENST00000376251.5:c.2928-2del	ENSP00000365427.1:n.2928-2del
ENST00000376265.2:c.3123-2del	ENSP00000365441.2:n.3123-2del
NM_001256789.2:c.3090-2del	NP_001243718.1:n.3090-2del
NM_001256790.2:c.2928-2del	NP_001243719.1:n.2928-2del
NM_005183.3:c.3123-2del	NP_005174.2:n.3123-2del
XM_011543983.1:c.2928-2del	XP_011542285.1:n.2928-2del
XM_011543983.2:c.2928-2del	XP_011542285.1:n.2928-2del
XM_017029836.1:c.357-2del	XP_016885325.1:n.357-2del
NM_001256789.3:c.3090-2del MANE Select	NP_001243718.1:n.3090-2del
NM_001256790.3:c.2928-2del	NP_001243719.1:n.2928-2del
NM_005183.4:c.3123-2del	NP_005174.2:n.3123-2del