Canonical Allele Identifier: CA412964231

Gene: CACNA1F

Linked Data

• MyVariant Identifiers: chrX:g.49074234T>G (hg19) ; chrX:g.49217775T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217775T>G , CM000685.2:g.49217775T>G	GRCh38
NC_000023.10:g.49074234T>G , CM000685.1:g.49074234T>G	GRCh37
NC_000023.9:g.48961178T>G	NCBI36
NG_009095.2:g.20592A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3069A>C MANE Select	ENSP00000321618.6:p.Lys1023Asn
ENST00000323022.9:c.3069A>C	ENSP00000321618.5:p.Lys1023Asn
ENST00000376251.5:c.2907A>C	ENSP00000365427.1:p.Lys969Asn
ENST00000376265.2:c.3102A>C	ENSP00000365441.2:p.Lys1034Asn
NM_001256789.2:c.3069A>C	NP_001243718.1:p.Lys1023Asn
NM_001256790.2:c.2907A>C	NP_001243719.1:p.Lys969Asn
NM_005183.3:c.3102A>C	NP_005174.2:p.Lys1034Asn
XM_011543983.1:c.2907A>C	XP_011542285.1:p.Lys969Asn
XM_011543983.2:c.2907A>C	XP_011542285.1:p.Lys969Asn
XM_017029836.1:c.336A>C	XP_016885325.1:p.Lys112Asn
NM_001256789.3:c.3069A>C MANE Select	NP_001243718.1:p.Lys1023Asn
NM_001256790.3:c.2907A>C	NP_001243719.1:p.Lys969Asn
NM_005183.4:c.3102A>C	NP_005174.2:p.Lys1034Asn