Canonical Allele Identifier: CA412963944

Gene: CACNA1F

Linked Data

• dbSNP Id: rs1557107402
• gnomAD v2: X-49072884-A-G
• gnomAD v4: X-49216424-A-G
• MyVariant Identifiers: chrX:g.49072884A>G (hg19) ; chrX:g.49216424A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216424A>G , CM000685.2:g.49216424A>G	GRCh38
NC_000023.10:g.49072884A>G , CM000685.1:g.49072884A>G	GRCh37
NC_000023.9:g.48959828A>G	NCBI36
NG_009095.2:g.21943T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3194T>C MANE Select	ENSP00000321618.6:p.Met1065Thr
ENST00000323022.9:c.3194T>C	ENSP00000321618.5:p.Met1065Thr
ENST00000376251.5:c.3032T>C	ENSP00000365427.1:p.Met1011Thr
ENST00000376265.2:c.3227T>C	ENSP00000365441.2:p.Met1076Thr
NM_001256789.2:c.3194T>C	NP_001243718.1:p.Met1065Thr
NM_001256790.2:c.3032T>C	NP_001243719.1:p.Met1011Thr
NM_005183.3:c.3227T>C	NP_005174.2:p.Met1076Thr
XM_011543983.1:c.3032T>C	XP_011542285.1:p.Met1011Thr
XM_011543983.2:c.3032T>C	XP_011542285.1:p.Met1011Thr
XM_017029836.1:c.461T>C	XP_016885325.1:p.Met154Thr
NM_001256789.3:c.3194T>C MANE Select	NP_001243718.1:p.Met1065Thr
NM_001256790.3:c.3032T>C	NP_001243719.1:p.Met1011Thr
NM_005183.4:c.3227T>C	NP_005174.2:p.Met1076Thr