Canonical Allele Identifier: CA412958029

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49206611G>A , CM000685.2:g.49206611G>A	GRCh38
NC_000023.10:g.49063072G>A , CM000685.1:g.49063072G>A	GRCh37
NC_000023.9:g.48950016G>A	NCBI36
NG_009095.2:g.31756C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001256789.3:c.5372C>T MANE Select	NP_001243718.1:p.Ser1791Phe
ENST00000323022.10:c.5372C>T MANE Select	ENSP00000321618.6:p.Ser1791Phe
NM_001256789.2:c.5372C>T	NP_001243718.1:p.Ser1791Phe
NM_001256790.2:c.5210C>T	NP_001243719.1:p.Ser1737Phe
NM_001256790.3:c.5210C>T	NP_001243719.1:p.Ser1737Phe
NM_005183.3:c.5405C>T	NP_005174.2:p.Ser1802Phe
NM_005183.4:c.5405C>T	NP_005174.2:p.Ser1802Phe
ENST00000323022.9:c.5372C>T	ENSP00000321618.5:p.Ser1791Phe
ENST00000376251.5:c.5210C>T	ENSP00000365427.1:p.Ser1737Phe
ENST00000376265.2:c.5405C>T	ENSP00000365441.2:p.Ser1802Phe
XM_011543983.1:c.5189C>T	XP_011542285.1:p.Ser1730Phe
XM_011543983.2:c.5189C>T	XP_011542285.1:p.Ser1730Phe
XM_017029836.1:c.2555C>T	XP_016885325.1:p.Ser852Phe