Canonical Allele Identifier: CA412961013

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49210636G>A , CM000685.2:g.49210636G>A	GRCh38
NC_000023.10:g.49067096G>A , CM000685.1:g.49067096G>A	GRCh37
NC_000023.9:g.48954040G>A	NCBI36
NG_009095.2:g.27731C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001256789.3:c.4439C>T MANE Select	NP_001243718.1:p.Pro1480Leu
ENST00000323022.10:c.4439C>T MANE Select	ENSP00000321618.6:p.Pro1480Leu
NM_001256789.2:c.4439C>T	NP_001243718.1:p.Pro1480Leu
NM_001256790.2:c.4277C>T	NP_001243719.1:p.Pro1426Leu
NM_001256790.3:c.4277C>T	NP_001243719.1:p.Pro1426Leu
NM_005183.3:c.4472C>T	NP_005174.2:p.Pro1491Leu
NM_005183.4:c.4472C>T	NP_005174.2:p.Pro1491Leu
ENST00000323022.9:c.4439C>T	ENSP00000321618.5:p.Pro1480Leu
ENST00000376251.5:c.4277C>T	ENSP00000365427.1:p.Pro1426Leu
ENST00000376265.2:c.4472C>T	ENSP00000365441.2:p.Pro1491Leu
ENST00000481035.1:n.364C>T
XM_011543983.1:c.4256C>T	XP_011542285.1:p.Pro1419Leu
XM_011543983.2:c.4256C>T	XP_011542285.1:p.Pro1419Leu
XM_017029836.1:c.1685C>T	XP_016885325.1:p.Pro562Leu