Canonical Allele Identifier: CA412963907

Gene: CACNA1F

Linked Data

• MyVariant Identifiers: chrX:g.49072867C>T (hg19) ; chrX:g.49216407C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216407C>T , CM000685.2:g.49216407C>T	GRCh38
NC_000023.10:g.49072867C>T , CM000685.1:g.49072867C>T	GRCh37
NC_000023.9:g.48959811C>T	NCBI36
NG_009095.2:g.21960G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3211G>A MANE Select	ENSP00000321618.6:p.Val1071Ile
ENST00000323022.9:c.3211G>A	ENSP00000321618.5:p.Val1071Ile
ENST00000376251.5:c.3049G>A	ENSP00000365427.1:p.Val1017Ile
ENST00000376265.2:c.3244G>A	ENSP00000365441.2:p.Val1082Ile
NM_001256789.2:c.3211G>A	NP_001243718.1:p.Val1071Ile
NM_001256790.2:c.3049G>A	NP_001243719.1:p.Val1017Ile
NM_005183.3:c.3244G>A	NP_005174.2:p.Val1082Ile
XM_011543983.1:c.3049G>A	XP_011542285.1:p.Val1017Ile
XM_011543983.2:c.3049G>A	XP_011542285.1:p.Val1017Ile
XM_017029836.1:c.478G>A	XP_016885325.1:p.Val160Ile
NM_001256789.3:c.3211G>A MANE Select	NP_001243718.1:p.Val1071Ile
NM_001256790.3:c.3049G>A	NP_001243719.1:p.Val1017Ile
NM_005183.4:c.3244G>A	NP_005174.2:p.Val1082Ile