Canonical Allele Identifier: CA645372674

Gene: FRMPD4

Linked Data

• ClinVar Variation Id: 435266
• ClinVar RCV Id: RCV000503328 ; RCV003962381
• dbSNP Id: rs765633648
• gnomAD v4: X-12498671-C-A
• MyVariant Identifiers: chrX:g.12516790C>A (hg19) ; chrX:g.12498671C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.12498671C>A , CM000685.2:g.12498671C>A	GRCh38
NC_000023.10:g.12516790C>A , CM000685.1:g.12516790C>A	GRCh37
NC_000023.9:g.12426711C>A	NCBI36
NG_016419.1:g.365206C>A
NG_016419.2:g.365206C>A
NG_016419.3:g.681211C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616992.2:c.-79-9C>A	ENSP00000482182.2:n.-79-9C>A
ENST00000657176.2:c.18-9C>A	ENSP00000499417.2:n.18-9C>A
ENST00000672869.2:c.96-9C>A	ENSP00000500566.2:n.96-9C>A
ENST00000673271.2:n.695-9C>A
ENST00000640291.2:c.96-9C>A	ENSP00000492353.2:n.96-9C>A
ENST00000656302.1:c.96-9C>A	ENSP00000499481.1:n.96-9C>A
ENST00000657176.1:c.96-9C>A	ENSP00000499417.1:n.96-9C>A
ENST00000657982.1:n.239-9C>A
ENST00000672010.1:c.33-9C>A	ENSP00000499962.1:n.33-9C>A
ENST00000672340.1:n.106-9C>A
ENST00000672861.1:n.98-9C>A
ENST00000673271.1:n.98-9C>A
ENST00000675598.1:c.42-9C>A MANE Select	ENSP00000502607.1:n.42-9C>A
ENST00000380682.5:c.42-9C>A	ENSP00000370057.1:n.42-9C>A
NM_014728.3:c.42-9C>A	NP_055543.2:n.42-9C>A
XM_005274632.2:c.42-9C>A	XP_005274689.1:n.42-9C>A
XM_011545613.1:c.42-9C>A	XP_011543915.1:n.42-9C>A
XM_005274632.3:c.114-9C>A	XP_005274689.2:n.114-9C>A
XM_011545613.2:c.42-9C>A	XP_011543915.1:n.42-9C>A
XM_017029983.1:c.33-9C>A	XP_016885472.1:n.33-9C>A
XM_017029984.1:c.114-9C>A	XP_016885473.1:n.114-9C>A
XM_017029985.1:c.114-9C>A	XP_016885474.1:n.114-9C>A
XM_017029986.1:c.33-9C>A	XP_016885475.1:n.33-9C>A
NM_001368395.2:c.153-9C>A	NP_001355324.1:n.153-9C>A
NM_001368396.3:c.42-9C>A	NP_001355325.1:n.42-9C>A
NM_001368397.1:c.42-9C>A MANE Select	NP_001355326.1:n.42-9C>A
NM_001368398.2:c.153-9C>A	NP_001355327.1:n.153-9C>A
NM_001368399.2:c.33-9C>A	NP_001355328.1:n.33-9C>A
NM_001368400.2:c.-79-9C>A	NP_001355329.1:n.-79-9C>A
NM_001368401.1:c.18-9C>A	NP_001355330.1:n.18-9C>A
NM_001368402.2:c.18-9C>A	NP_001355331.1:n.18-9C>A
NM_001368395.3:c.153-9C>A	NP_001355324.1:n.153-9C>A
NM_001368398.3:c.153-9C>A	NP_001355327.1:n.153-9C>A
NM_001368399.3:c.33-9C>A	NP_001355328.1:n.33-9C>A
NM_001368400.3:c.-79-9C>A	NP_001355329.1:n.-79-9C>A
NM_001368402.3:c.18-9C>A	NP_001355331.1:n.18-9C>A