Canonical Allele Identifier: CA412909826

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49222585A>C , CM000685.2:g.49222585A>C	GRCh38
NC_000023.10:g.49079044A>C , CM000685.1:g.49079044A>C	GRCh37
NC_000023.9:g.48965988A>C	NCBI36
NG_009095.2:g.15782T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001256789.3:c.2225T>G MANE Select	NP_001243718.1:p.Phe742Cys
ENST00000323022.10:c.2225T>G MANE Select	ENSP00000321618.6:p.Phe742Cys
NM_001256789.2:c.2225T>G	NP_001243718.1:p.Phe742Cys
NM_001256790.2:c.2063T>G	NP_001243719.1:p.Phe688Cys
NM_001256790.3:c.2063T>G	NP_001243719.1:p.Phe688Cys
NM_005183.3:c.2258T>G	NP_005174.2:p.Phe753Cys
NM_005183.4:c.2258T>G	NP_005174.2:p.Phe753Cys
ENST00000323022.9:c.2225T>G	ENSP00000321618.5:p.Phe742Cys
ENST00000376251.5:c.2063T>G	ENSP00000365427.1:p.Phe688Cys
ENST00000376265.2:c.2258T>G	ENSP00000365441.2:p.Phe753Cys
ENST00000480889.1:n.355T>G
XM_011543983.1:c.2063T>G	XP_011542285.1:p.Phe688Cys
XM_011543983.2:c.2063T>G	XP_011542285.1:p.Phe688Cys