Canonical Allele Identifier: CA412964718

Gene: CACNA1F

Linked Data

• gnomAD v4: X-49218529-A-G
• MyVariant Identifiers: chrX:g.49074988A>G (hg19) ; chrX:g.49218529A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49218529A>G , CM000685.2:g.49218529A>G	GRCh38
NC_000023.10:g.49074988A>G , CM000685.1:g.49074988A>G	GRCh37
NC_000023.9:g.48961932A>G	NCBI36
NG_009095.2:g.19838T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2854T>C MANE Select	ENSP00000321618.6:p.Ser952Pro
ENST00000323022.9:c.2854T>C	ENSP00000321618.5:p.Ser952Pro
ENST00000376251.5:c.2692T>C	ENSP00000365427.1:p.Ser898Pro
ENST00000376265.2:c.2887T>C	ENSP00000365441.2:p.Ser963Pro
NM_001256789.2:c.2854T>C	NP_001243718.1:p.Ser952Pro
NM_001256790.2:c.2692T>C	NP_001243719.1:p.Ser898Pro
NM_005183.3:c.2887T>C	NP_005174.2:p.Ser963Pro
XM_011543983.1:c.2692T>C	XP_011542285.1:p.Ser898Pro
XM_011543983.2:c.2692T>C	XP_011542285.1:p.Ser898Pro
XM_017029836.1:c.121T>C	XP_016885325.1:p.Ser41Pro
NM_001256789.3:c.2854T>C MANE Select	NP_001243718.1:p.Ser952Pro
NM_001256790.3:c.2692T>C	NP_001243719.1:p.Ser898Pro
NM_005183.4:c.2887T>C	NP_005174.2:p.Ser963Pro