Canonical Allele Identifier: CA2693714989

Gene: CACNA1F

Linked Data

• gnomAD v4: X-49222504-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49222504G>C , CM000685.2:g.49222504G>C	GRCh38
NC_000023.10:g.49078963G>C , CM000685.1:g.49078963G>C	GRCh37
NC_000023.9:g.48965907G>C	NCBI36
NG_009095.2:g.15863C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2288+18C>G MANE Select	ENSP00000321618.6:n.2288+18C>G
ENST00000323022.9:c.2288+18C>G	ENSP00000321618.5:n.2288+18C>G
ENST00000376251.5:c.2126+18C>G	ENSP00000365427.1:n.2126+18C>G
ENST00000376265.2:c.2321+18C>G	ENSP00000365441.2:n.2321+18C>G
ENST00000480889.1:n.418+18C>G
NM_001256789.2:c.2288+18C>G	NP_001243718.1:n.2288+18C>G
NM_001256790.2:c.2126+18C>G	NP_001243719.1:n.2126+18C>G
NM_005183.3:c.2321+18C>G	NP_005174.2:n.2321+18C>G
XM_011543983.1:c.2126+18C>G	XP_011542285.1:n.2126+18C>G
XM_011543983.2:c.2126+18C>G	XP_011542285.1:n.2126+18C>G
NM_001256789.3:c.2288+18C>G MANE Select	NP_001243718.1:n.2288+18C>G
NM_001256790.3:c.2126+18C>G	NP_001243719.1:n.2126+18C>G
NM_005183.4:c.2321+18C>G	NP_005174.2:n.2321+18C>G