Canonical Allele Identifier: CA516377416

Gene: CACNA1F

Linked Data

• gnomAD v4: X-49217925-G-A
• COSMIC: COSM3780506
• MyVariant Identifiers: chrX:g.49074384G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217925G>A , CM000685.2:g.49217925G>A	GRCh38
NC_000023.10:g.49074384G>A , CM000685.1:g.49074384G>A	GRCh37
NC_000023.9:g.48961328G>A	NCBI36
NG_009095.2:g.20442C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3009C>T MANE Select	ENSP00000321618.6:p.Phe1003=
ENST00000323022.9:c.3009C>T	ENSP00000321618.5:p.Phe1003=
ENST00000376251.5:c.2847C>T	ENSP00000365427.1:p.Phe949=
ENST00000376265.2:c.3042C>T	ENSP00000365441.2:p.Phe1014=
NM_001256789.2:c.3009C>T	NP_001243718.1:p.Phe1003=
NM_001256790.2:c.2847C>T	NP_001243719.1:p.Phe949=
NM_005183.3:c.3042C>T	NP_005174.2:p.Phe1014=
XM_011543983.1:c.2847C>T	XP_011542285.1:p.Phe949=
XM_011543983.2:c.2847C>T	XP_011542285.1:p.Phe949=
XM_017029836.1:c.276C>T	XP_016885325.1:p.Phe92=
NM_001256789.3:c.3009C>T MANE Select	NP_001243718.1:p.Phe1003=
NM_001256790.3:c.2847C>T	NP_001243719.1:p.Phe949=
NM_005183.4:c.3042C>T	NP_005174.2:p.Phe1014=