Canonical Allele Identifier: CA412912239

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49223032A>C , CM000685.2:g.49223032A>C	GRCh38
NC_000023.10:g.49079491A>C , CM000685.1:g.49079491A>C	GRCh37
NC_000023.9:g.48966435A>C	NCBI36
NG_009095.2:g.15335T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001256789.3:c.1982T>G MANE Select	NP_001243718.1:p.Leu661Arg
ENST00000323022.10:c.1982T>G MANE Select	ENSP00000321618.6:p.Leu661Arg
NM_001256789.2:c.1982T>G	NP_001243718.1:p.Leu661Arg
NM_001256790.2:c.1820T>G	NP_001243719.1:p.Leu607Arg
NM_001256790.3:c.1820T>G	NP_001243719.1:p.Leu607Arg
NM_005183.3:c.2015T>G	NP_005174.2:p.Leu672Arg
NM_005183.4:c.2015T>G	NP_005174.2:p.Leu672Arg
ENST00000323022.9:c.1982T>G	ENSP00000321618.5:p.Leu661Arg
ENST00000376251.5:c.1820T>G	ENSP00000365427.1:p.Leu607Arg
ENST00000376265.2:c.2015T>G	ENSP00000365441.2:p.Leu672Arg
ENST00000480889.1:n.112T>G
XM_011543983.1:c.1820T>G	XP_011542285.1:p.Leu607Arg
XM_011543983.2:c.1820T>G	XP_011542285.1:p.Leu607Arg