Canonical Allele Identifier: CA248418

Gene: FHOD1 SLC9A5

Linked Data

• ClinVar Variation Id: 156714
• ClinVar RCV Id: RCV000190292
• dbSNP Id: rs587777904
• MyVariant Identifiers: chr16:g.67271944G>A (hg19) ; chr16:g.67238041G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67238041G>A , CM000678.2:g.67238041G>A	GRCh38
NC_000016.9:g.67271944G>A , CM000678.1:g.67271944G>A	GRCh37
NC_000016.8:g.65829445G>A	NCBI36
NG_029672.1:g.14482C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258201.9:c.635C>T (FHOD1) MANE Select	ENSP00000258201.4:p.Ala212Val
ENST00000258201.8:c.635C>T (FHOD1)	ENSP00000258201.4:p.Ala212Val
ENST00000561922.1:c.*148C>T (FHOD1)	ENSP00000458085.1:n.*148C>T
ENST00000564704.5:n.359G>A (SLC9A5)
ENST00000567752.5:n.1216C>T (FHOD1)
NM_013241.2:c.635C>T (FHOD1)	NP_037373.2:p.Ala212Val
XM_005255909.1:c.635C>T (FHOD1)	XP_005255966.1:p.Ala212Val
XM_005255910.1:c.635C>T (FHOD1)	XP_005255967.1:p.Ala212Val
XM_011523043.1:c.605C>T (FHOD1)	XP_011521345.1:p.Ala202Val
XM_011523044.1:c.635C>T (FHOD1)	XP_011521346.1:p.Ala212Val
XM_011523045.1:c.356C>T (FHOD1)	XP_011521347.1:p.Ala119Val
XR_933285.1:n.692C>T (FHOD1)
XR_933286.1:n.692C>T (FHOD1)
NM_001318202.1:c.635C>T (FHOD1)	NP_001305131.1:p.Ala212Val
XM_011523043.2:c.605C>T (FHOD1)	XP_011521345.1:p.Ala202Val
XM_011523045.2:c.356C>T (FHOD1)	XP_011521347.1:p.Ala119Val
XR_001751895.1:n.692C>T (FHOD1)
NM_013241.3:c.635C>T (FHOD1) MANE Select	NP_037373.2:p.Ala212Val
NM_001318202.2:c.635C>T (FHOD1)	NP_001305131.1:p.Ala212Val