Canonical Allele Identifier: CA10410516

Gene: CACNA1F

Linked Data

• dbSNP Id: rs782690400
• ExAC: X:49072880 C / T
• gnomAD v2: X-49072880-C-T
• gnomAD v3: X-49216420-C-T
• gnomAD v4: X-49216420-C-T
• COSMIC: COSM3562069
• MyVariant Identifiers: chrX:g.49072880C>T (hg19) ; chrX:g.49216420C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216420C>T , CM000685.2:g.49216420C>T	GRCh38
NC_000023.10:g.49072880C>T , CM000685.1:g.49072880C>T	GRCh37
NC_000023.9:g.48959824C>T	NCBI36
NG_009095.2:g.21947G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3198G>A MANE Select	ENSP00000321618.6:p.Met1066Ile
ENST00000323022.9:c.3198G>A	ENSP00000321618.5:p.Met1066Ile
ENST00000376251.5:c.3036G>A	ENSP00000365427.1:p.Met1012Ile
ENST00000376265.2:c.3231G>A	ENSP00000365441.2:p.Met1077Ile
NM_001256789.2:c.3198G>A	NP_001243718.1:p.Met1066Ile
NM_001256790.2:c.3036G>A	NP_001243719.1:p.Met1012Ile
NM_005183.3:c.3231G>A	NP_005174.2:p.Met1077Ile
XM_011543983.1:c.3036G>A	XP_011542285.1:p.Met1012Ile
XM_011543983.2:c.3036G>A	XP_011542285.1:p.Met1012Ile
XM_017029836.1:c.465G>A	XP_016885325.1:p.Met155Ile
NM_001256789.3:c.3198G>A MANE Select	NP_001243718.1:p.Met1066Ile
NM_001256790.3:c.3036G>A	NP_001243719.1:p.Met1012Ile
NM_005183.4:c.3231G>A	NP_005174.2:p.Met1077Ile