Canonical Allele Identifier: CA641531291

Gene: CACNA1F

Linked Data

• dbSNP Id: rs782467211
• gnomAD v2: X-49074192-C-G
• gnomAD v4: X-49217733-C-G
• MyVariant Identifiers: chrX:g.49074192C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49217733C>G , CM000685.2:g.49217733C>G	GRCh38
NC_000023.10:g.49074192C>G , CM000685.1:g.49074192C>G	GRCh37
NC_000023.9:g.48961136C>G	NCBI36
NG_009095.2:g.20634G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000323022.10:c.3089+22G>C MANE Select	ENSP00000321618.6:n.3089+22G>C
ENST00000323022.9:c.3089+22G>C	ENSP00000321618.5:n.3089+22G>C
ENST00000376251.5:c.2927+22G>C	ENSP00000365427.1:n.2927+22G>C
ENST00000376265.2:c.3122+22G>C	ENSP00000365441.2:n.3122+22G>C
NM_001256789.2:c.3089+22G>C	NP_001243718.1:n.3089+22G>C
NM_001256790.2:c.2927+22G>C	NP_001243719.1:n.2927+22G>C
NM_005183.3:c.3122+22G>C	NP_005174.2:n.3122+22G>C
XM_011543983.1:c.2927+22G>C	XP_011542285.1:n.2927+22G>C
XM_011543983.2:c.2927+22G>C	XP_011542285.1:n.2927+22G>C
XM_017029836.1:c.356+22G>C	XP_016885325.1:n.356+22G>C
NM_001256789.3:c.3089+22G>C MANE Select	NP_001243718.1:n.3089+22G>C
NM_001256790.3:c.2927+22G>C	NP_001243719.1:n.2927+22G>C
NM_005183.4:c.3122+22G>C	NP_005174.2:n.3122+22G>C