Canonical Allele Identifier: CA12718198
Gene: PHYHIP HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.22228978G>A
GRCh37 chr8:g.22086491G>A
gnomAD v2:
8:22086491 G / A
gnomAD v3:
8:22228978 G / A
gnomAD v4:
chr8-22228978-G-A
Joint Max Group AF 0.84510066 (SAS)
Genomes Max Group AF 0.84510066 (SAS)
Exomes Max Group AF 0.46906723 (NFE)
dbSNP:
4871976
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.22228978G>A , CM000670.2:g.22228978G>A GRCh38
NC_000008.10:g.22086491G>A , CM000670.1:g.22086491G>A GRCh37
NC_000008.9:g.22142436G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000454243.7:c.-29-592C>T MANE Select ENSP00000415491.2:n.-29-592C>T
ENST00000321613.7:c.-151-69C>T ENSP00000320017.3:n.-151-69C>T
ENST00000454243.6:c.-29-592C>T ENSP00000415491.2:n.-29-592C>T
NM_001099335.1:c.-151-69C>T NP_001092805.1:n.-151-69C>T
NM_014759.3:c.-29-592C>T NP_055574.3:n.-29-592C>T
XM_006716416.1:c.-29-592C>T XP_006716479.1:n.-29-592C>T
XR_247134.2:n.339-592C>T
NM_001363311.1:c.-151-69C>T NP_001350240.1:n.-151-69C>T
NM_001363312.1:c.-29-592C>T NP_001350241.1:n.-29-592C>T
NR_156475.1:n.558-592C>T
NM_014759.4:c.-29-592C>T NP_055574.3:n.-29-592C>T
NM_014759.5:c.-29-592C>T MANE Select NP_055574.3:n.-29-592C>T
NM_001099335.2:c.-151-69C>T NP_001092805.1:n.-151-69C>T
NM_001363311.2:c.-151-69C>T NP_001350240.1:n.-151-69C>T
NM_001363312.2:c.-29-592C>T NP_001350241.1:n.-29-592C>T
NR_156475.2:n.305-592C>T
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