Canonical Allele Identifier: CA3142230

Gene: HPGD

Linked Data

• ClinVar Variation Id: 901640
• ClinVar RCV Id: RCV001147673 ; RCV001147672 ; RCV003246726 ; RCV001882452
• dbSNP Id: rs202175053
• ExAC: 4:175414463 C / A
• gnomAD v2: 4-175414463-C-A
• gnomAD v3: 4-174493312-C-A
• gnomAD v4: 4-174493312-C-A
• MyVariant Identifiers: chr4:g.175414463C>A (hg19) ; chr4:g.174493312C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493312C>A , CM000666.2:g.174493312C>A	GRCh38
NC_000004.11:g.175414463C>A , CM000666.1:g.175414463C>A	GRCh37
NC_000004.10:g.175651038C>A	NCBI36
NG_011689.1:g.34330G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.501G>T MANE Select	ENSP00000296522.6:p.Leu167Phe
ENST00000296521.11:c.499-1218G>T	ENSP00000296521.7:n.499-1218G>T
ENST00000296522.10:c.501G>T	ENSP00000296522.6:p.Leu167Phe
ENST00000422112.6:c.297G>T	ENSP00000398720.2:p.Leu99Phe
ENST00000506910.5:c.138G>T	ENSP00000423066.1:p.Leu46Phe
ENST00000508330.5:c.*130G>T	ENSP00000425741.1:n.*130G>T
ENST00000509512.1:n.150G>T
ENST00000510835.5:c.*263G>T	ENSP00000427699.1:n.*263G>T
ENST00000510901.5:c.138G>T	ENSP00000422418.1:p.Leu46Phe
ENST00000511499.5:n.285G>T
ENST00000514584.5:c.138G>T	ENSP00000423110.1:p.Leu46Phe
ENST00000541923.5:c.138G>T	ENSP00000438017.1:p.Leu46Phe
ENST00000542498.5:c.422-1218G>T	ENSP00000443644.1:n.422-1218G>T
NM_000860.5:c.501G>T	NP_000851.2:p.Leu167Phe
NM_001145816.2:c.499-1218G>T	NP_001139288.1:n.499-1218G>T
NM_001256301.1:c.138G>T	NP_001243230.1:p.Leu46Phe
NM_001256305.1:c.422-1218G>T	NP_001243234.1:n.422-1218G>T
NM_001256306.1:c.297G>T	NP_001243235.1:p.Leu99Phe
NM_001256307.1:c.138G>T	NP_001243236.1:p.Leu46Phe
NM_000860.6:c.501G>T MANE Select	NP_000851.2:p.Leu167Phe
NM_001145816.3:c.499-1218G>T	NP_001139288.1:n.499-1218G>T
NM_001256305.2:c.422-1218G>T	NP_001243234.1:n.422-1218G>T
NM_001256306.2:c.297G>T	NP_001243235.1:p.Leu99Phe
NM_001256307.2:c.138G>T	NP_001243236.1:p.Leu46Phe