Canonical Allele Identifier: CA516377332

Gene: CACNA1F

Linked Data

• MyVariant Identifiers: chrX:g.49072943C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216483C>G , CM000685.2:g.49216483C>G	GRCh38
NC_000023.10:g.49072943C>G , CM000685.1:g.49072943C>G	GRCh37
NC_000023.9:g.48959887C>G	NCBI36
NG_009095.2:g.21884G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3135G>C MANE Select	ENSP00000321618.6:p.Leu1045=
ENST00000323022.9:c.3135G>C	ENSP00000321618.5:p.Leu1045=
ENST00000376251.5:c.2973G>C	ENSP00000365427.1:p.Leu991=
ENST00000376265.2:c.3168G>C	ENSP00000365441.2:p.Leu1056=
NM_001256789.2:c.3135G>C	NP_001243718.1:p.Leu1045=
NM_001256790.2:c.2973G>C	NP_001243719.1:p.Leu991=
NM_005183.3:c.3168G>C	NP_005174.2:p.Leu1056=
XM_011543983.1:c.2973G>C	XP_011542285.1:p.Leu991=
XM_011543983.2:c.2973G>C	XP_011542285.1:p.Leu991=
XM_017029836.1:c.402G>C	XP_016885325.1:p.Leu134=
NM_001256789.3:c.3135G>C MANE Select	NP_001243718.1:p.Leu1045=
NM_001256790.3:c.2973G>C	NP_001243719.1:p.Leu991=
NM_005183.4:c.3168G>C	NP_005174.2:p.Leu1056=