Canonical Allele Identifier: CA10410527

Gene: CACNA1F

Linked Data

• dbSNP Id: rs377454650
• ExAC: X:49072973 T / C
• gnomAD v2: X-49072973-T-C
• gnomAD v3: X-49216513-T-C
• gnomAD v4: X-49216513-T-C
• MyVariant Identifiers: chrX:g.49072973T>C (hg19) ; chrX:g.49216513T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216513T>C , CM000685.2:g.49216513T>C	GRCh38
NC_000023.10:g.49072973T>C , CM000685.1:g.49072973T>C	GRCh37
NC_000023.9:g.48959917T>C	NCBI36
NG_009095.2:g.21854A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3105A>G MANE Select	ENSP00000321618.6:p.Val1035=
ENST00000323022.9:c.3105A>G	ENSP00000321618.5:p.Val1035=
ENST00000376251.5:c.2943A>G	ENSP00000365427.1:p.Val981=
ENST00000376265.2:c.3138A>G	ENSP00000365441.2:p.Val1046=
NM_001256789.2:c.3105A>G	NP_001243718.1:p.Val1035=
NM_001256790.2:c.2943A>G	NP_001243719.1:p.Val981=
NM_005183.3:c.3138A>G	NP_005174.2:p.Val1046=
XM_011543983.1:c.2943A>G	XP_011542285.1:p.Val981=
XM_011543983.2:c.2943A>G	XP_011542285.1:p.Val981=
XM_017029836.1:c.372A>G	XP_016885325.1:p.Val124=
NM_001256789.3:c.3105A>G MANE Select	NP_001243718.1:p.Val1035=
NM_001256790.3:c.2943A>G	NP_001243719.1:p.Val981=
NM_005183.4:c.3138A>G	NP_005174.2:p.Val1046=