Canonical Allele Identifier: CA412960047

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49209353C>G , CM000685.2:g.49209353C>G	GRCh38
NC_000023.10:g.49065813C>G , CM000685.1:g.49065813C>G	GRCh37
NC_000023.9:g.48952757C>G	NCBI36
NG_009095.2:g.29014G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001256789.3:c.4862G>C MANE Select	NP_001243718.1:p.Arg1621Pro
ENST00000323022.10:c.4862G>C MANE Select	ENSP00000321618.6:p.Arg1621Pro
NM_001256789.2:c.4862G>C	NP_001243718.1:p.Arg1621Pro
NM_001256790.2:c.4700G>C	NP_001243719.1:p.Arg1567Pro
NM_001256790.3:c.4700G>C	NP_001243719.1:p.Arg1567Pro
NM_005183.3:c.4895G>C	NP_005174.2:p.Arg1632Pro
NM_005183.4:c.4895G>C	NP_005174.2:p.Arg1632Pro
ENST00000323022.9:c.4862G>C	ENSP00000321618.5:p.Arg1621Pro
ENST00000376251.5:c.4700G>C	ENSP00000365427.1:p.Arg1567Pro
ENST00000376265.2:c.4895G>C	ENSP00000365441.2:p.Arg1632Pro
ENST00000486943.1:c.125G>C	ENSP00000418961.1:p.Arg42Pro
XM_011543983.1:c.4679G>C	XP_011542285.1:p.Arg1560Pro
XM_011543983.2:c.4679G>C	XP_011542285.1:p.Arg1560Pro
XM_017029836.1:c.2108G>C	XP_016885325.1:p.Arg703Pro