Canonical Allele Identifier: CA329140788

Gene: CACNA1F

Linked Data

• dbSNP Id: rs782088470
• gnomAD v3: X-49217967-G-C
• gnomAD v4: X-49217967-G-C
• MyVariant Identifiers: chrX:g.49074426G>C (hg19) ; chrX:g.49217967G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217967G>C , CM000685.2:g.49217967G>C	GRCh38
NC_000023.10:g.49074426G>C , CM000685.1:g.49074426G>C	GRCh37
NC_000023.9:g.48961370G>C	NCBI36
NG_009095.2:g.20400C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.2967C>G MANE Select	ENSP00000321618.6:p.Ile989Met
ENST00000323022.9:c.2967C>G	ENSP00000321618.5:p.Ile989Met
ENST00000376251.5:c.2805C>G	ENSP00000365427.1:p.Ile935Met
ENST00000376265.2:c.3000C>G	ENSP00000365441.2:p.Ile1000Met
NM_001256789.2:c.2967C>G	NP_001243718.1:p.Ile989Met
NM_001256790.2:c.2805C>G	NP_001243719.1:p.Ile935Met
NM_005183.3:c.3000C>G	NP_005174.2:p.Ile1000Met
XM_011543983.1:c.2805C>G	XP_011542285.1:p.Ile935Met
XM_011543983.2:c.2805C>G	XP_011542285.1:p.Ile935Met
XM_017029836.1:c.234C>G	XP_016885325.1:p.Ile78Met
NM_001256789.3:c.2967C>G MANE Select	NP_001243718.1:p.Ile989Met
NM_001256790.3:c.2805C>G	NP_001243719.1:p.Ile935Met
NM_005183.4:c.3000C>G	NP_005174.2:p.Ile1000Met