Canonical Allele Identifier: CA516377357
Gene: CACNA1F HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.49072973T>G (hg19)

Genomic Alleles

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

Transcript Alleles

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