Canonical Allele Identifier: CA2693715765

Gene: CACNA1F

Linked Data

• gnomAD v4: X-49216311-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216311A>T , CM000685.2:g.49216311A>T	GRCh38
NC_000023.10:g.49072771A>T , CM000685.1:g.49072771A>T	GRCh37
NC_000023.9:g.48959715A>T	NCBI36
NG_009095.2:g.22056T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3236+71T>A MANE Select	ENSP00000321618.6:n.3236+71T>A
ENST00000323022.9:c.3236+71T>A	ENSP00000321618.5:n.3236+71T>A
ENST00000376251.5:c.3074+71T>A	ENSP00000365427.1:n.3074+71T>A
ENST00000376265.2:c.3269+71T>A	ENSP00000365441.2:n.3269+71T>A
NM_001256789.2:c.3236+71T>A	NP_001243718.1:n.3236+71T>A
NM_001256790.2:c.3074+71T>A	NP_001243719.1:n.3074+71T>A
NM_005183.3:c.3269+71T>A	NP_005174.2:n.3269+71T>A
XM_011543983.1:c.3074+71T>A	XP_011542285.1:n.3074+71T>A
XM_011543983.2:c.3074+71T>A	XP_011542285.1:n.3074+71T>A
XM_017029836.1:c.503+71T>A	XP_016885325.1:n.503+71T>A
NM_001256789.3:c.3236+71T>A MANE Select	NP_001243718.1:n.3236+71T>A
NM_001256790.3:c.3074+71T>A	NP_001243719.1:n.3074+71T>A
NM_005183.4:c.3269+71T>A	NP_005174.2:n.3269+71T>A