Canonical Allele Identifier: CA10410526

Gene: CACNA1F

Linked Data

• ClinVar Variation Id: 1153345
• ClinVar RCV Id: RCV001494996
• dbSNP Id: rs782623110
• ExAC: X:49072958 G / A
• gnomAD v2: X-49072958-G-A
• gnomAD v3: X-49216498-G-A
• gnomAD v4: X-49216498-G-A
• MyVariant Identifiers: chrX:g.49072958G>A (hg19) ; chrX:g.49216498G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216498G>A , CM000685.2:g.49216498G>A	GRCh38
NC_000023.10:g.49072958G>A , CM000685.1:g.49072958G>A	GRCh37
NC_000023.9:g.48959902G>A	NCBI36
NG_009095.2:g.21869C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3120C>T MANE Select	ENSP00000321618.6:p.Asp1040=
ENST00000323022.9:c.3120C>T	ENSP00000321618.5:p.Asp1040=
ENST00000376251.5:c.2958C>T	ENSP00000365427.1:p.Asp986=
ENST00000376265.2:c.3153C>T	ENSP00000365441.2:p.Asp1051=
NM_001256789.2:c.3120C>T	NP_001243718.1:p.Asp1040=
NM_001256790.2:c.2958C>T	NP_001243719.1:p.Asp986=
NM_005183.3:c.3153C>T	NP_005174.2:p.Asp1051=
XM_011543983.1:c.2958C>T	XP_011542285.1:p.Asp986=
XM_011543983.2:c.2958C>T	XP_011542285.1:p.Asp986=
XM_017029836.1:c.387C>T	XP_016885325.1:p.Asp129=
NM_001256789.3:c.3120C>T MANE Select	NP_001243718.1:p.Asp1040=
NM_001256790.3:c.2958C>T	NP_001243719.1:p.Asp986=
NM_005183.4:c.3153C>T	NP_005174.2:p.Asp1051=