Canonical Allele Identifier: CA412920065

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49228112G>A , CM000685.2:g.49228112G>A	GRCh38
NC_000023.10:g.49084574G>A , CM000685.1:g.49084574G>A	GRCh37
NC_000023.9:g.48971518G>A	NCBI36
NG_009095.2:g.10255C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001256789.3:c.1042C>T MANE Select	NP_001243718.1:p.Pro348Ser
ENST00000323022.10:c.1042C>T MANE Select	ENSP00000321618.6:p.Pro348Ser
NM_001256789.2:c.1042C>T	NP_001243718.1:p.Pro348Ser
NM_001256790.2:c.847C>T	NP_001243719.1:p.Pro283Ser
NM_001256790.3:c.847C>T	NP_001243719.1:p.Pro283Ser
NM_005183.3:c.1042C>T	NP_005174.2:p.Pro348Ser
NM_005183.4:c.1042C>T	NP_005174.2:p.Pro348Ser
ENST00000323022.9:c.1042C>T	ENSP00000321618.5:p.Pro348Ser
ENST00000376251.5:c.847C>T	ENSP00000365427.1:p.Pro283Ser
ENST00000376265.2:c.1042C>T	ENSP00000365441.2:p.Pro348Ser
XM_011543983.1:c.847C>T	XP_011542285.1:p.Pro283Ser
XM_011543983.2:c.847C>T	XP_011542285.1:p.Pro283Ser