Canonical Allele Identifier: CA412964134

Gene: CACNA1F

Linked Data

• dbSNP Id: rs1557107464
• gnomAD v2: X-49072972-A-G
• gnomAD v4: X-49216512-A-G
• MyVariant Identifiers: chrX:g.49072972A>G (hg19) ; chrX:g.49216512A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49216512A>G , CM000685.2:g.49216512A>G	GRCh38
NC_000023.10:g.49072972A>G , CM000685.1:g.49072972A>G	GRCh37
NC_000023.9:g.48959916A>G	NCBI36
NG_009095.2:g.21855T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323022.10:c.3106T>C MANE Select	ENSP00000321618.6:p.Tyr1036His
ENST00000323022.9:c.3106T>C	ENSP00000321618.5:p.Tyr1036His
ENST00000376251.5:c.2944T>C	ENSP00000365427.1:p.Tyr982His
ENST00000376265.2:c.3139T>C	ENSP00000365441.2:p.Tyr1047His
NM_001256789.2:c.3106T>C	NP_001243718.1:p.Tyr1036His
NM_001256790.2:c.2944T>C	NP_001243719.1:p.Tyr982His
NM_005183.3:c.3139T>C	NP_005174.2:p.Tyr1047His
XM_011543983.1:c.2944T>C	XP_011542285.1:p.Tyr982His
XM_011543983.2:c.2944T>C	XP_011542285.1:p.Tyr982His
XM_017029836.1:c.373T>C	XP_016885325.1:p.Tyr125His
NM_001256789.3:c.3106T>C MANE Select	NP_001243718.1:p.Tyr1036His
NM_001256790.3:c.2944T>C	NP_001243719.1:p.Tyr982His
NM_005183.4:c.3139T>C	NP_005174.2:p.Tyr1047His