Canonical Allele Identifier: CA10410518

Gene: CACNA1F

Linked Data

• dbSNP Id: rs782124745
• ExAC: X:49072903 C / T
• MyVariant Identifiers: chrX:g.49072903C>T (hg19) ; chrX:g.49216443C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216443C>T , CM000685.2:g.49216443C>T	GRCh38
NC_000023.10:g.49072903C>T , CM000685.1:g.49072903C>T	GRCh37
NC_000023.9:g.48959847C>T	NCBI36
NG_009095.2:g.21924G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3175G>A MANE Select	ENSP00000321618.6:p.Asp1059Asn
ENST00000323022.9:c.3175G>A	ENSP00000321618.5:p.Asp1059Asn
ENST00000376251.5:c.3013G>A	ENSP00000365427.1:p.Asp1005Asn
ENST00000376265.2:c.3208G>A	ENSP00000365441.2:p.Asp1070Asn
NM_001256789.2:c.3175G>A	NP_001243718.1:p.Asp1059Asn
NM_001256790.2:c.3013G>A	NP_001243719.1:p.Asp1005Asn
NM_005183.3:c.3208G>A	NP_005174.2:p.Asp1070Asn
XM_011543983.1:c.3013G>A	XP_011542285.1:p.Asp1005Asn
XM_011543983.2:c.3013G>A	XP_011542285.1:p.Asp1005Asn
XM_017029836.1:c.442G>A	XP_016885325.1:p.Asp148Asn
NM_001256789.3:c.3175G>A MANE Select	NP_001243718.1:p.Asp1059Asn
NM_001256790.3:c.3013G>A	NP_001243719.1:p.Asp1005Asn
NM_005183.4:c.3208G>A	NP_005174.2:p.Asp1070Asn