Canonical Allele Identifier: CA412927828

Gene: CACNA1F

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49231796G>A , CM000685.2:g.49231796G>A	GRCh38
NC_000023.10:g.49088258G>A , CM000685.1:g.49088258G>A	GRCh37
NC_000023.9:g.48975202G>A	NCBI36
NG_009095.2:g.6571C>T
NG_021311.2:g.1332G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001256789.3:c.157C>T MANE Select	NP_001243718.1:p.Gln53Ter
ENST00000323022.10:c.157C>T MANE Select	ENSP00000321618.6:p.Gln53Ter
NM_001256789.2:c.157C>T	NP_001243718.1:p.Gln53Ter
NM_001256790.2:c.66-104C>T	NP_001243719.1:n.66-104C>T
NM_001256790.3:c.66-104C>T	NP_001243719.1:n.66-104C>T
NM_005183.3:c.157C>T	NP_005174.2:p.Gln53Ter
NM_005183.4:c.157C>T	NP_005174.2:p.Gln53Ter
ENST00000323022.9:c.157C>T	ENSP00000321618.5:p.Gln53Ter
ENST00000376251.5:c.66-104C>T	ENSP00000365427.1:n.66-104C>T
ENST00000376265.2:c.157C>T	ENSP00000365441.2:p.Gln53Ter
XM_011543983.1:c.66-104C>T	XP_011542285.1:n.66-104C>T
XM_011543983.2:c.66-104C>T	XP_011542285.1:n.66-104C>T