Canonical Allele Identifier: CA412928334

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49231862C>G , CM000685.2:g.49231862C>G	GRCh38
NC_000023.10:g.49088324C>G , CM000685.1:g.49088324C>G	GRCh37
NC_000023.9:g.48975268C>G	NCBI36
NG_009095.2:g.6505G>C
NG_021311.2:g.1398C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.91G>C MANE Select	ENSP00000321618.6:p.Gly31Arg
ENST00000323022.9:c.91G>C	ENSP00000321618.5:p.Gly31Arg
ENST00000376251.5:c.66-170G>C	ENSP00000365427.1:n.66-170G>C
ENST00000376265.2:c.91G>C	ENSP00000365441.2:p.Gly31Arg
NM_001256789.2:c.91G>C	NP_001243718.1:p.Gly31Arg
NM_001256790.2:c.66-170G>C	NP_001243719.1:n.66-170G>C
NM_005183.3:c.91G>C	NP_005174.2:p.Gly31Arg
XM_011543983.1:c.66-170G>C	XP_011542285.1:n.66-170G>C
XM_011543983.2:c.66-170G>C	XP_011542285.1:n.66-170G>C
NM_001256789.3:c.91G>C MANE Select	NP_001243718.1:p.Gly31Arg
NM_001256790.3:c.66-170G>C	NP_001243719.1:n.66-170G>C
NM_005183.4:c.91G>C	NP_005174.2:p.Gly31Arg