Canonical Allele Identifier: CA3900286

Gene: PHIP

Linked Data

• ClinVar Variation Id: 2184310
• ClinVar RCV Id: RCV002615762 ; RCV003918920
• dbSNP Id: rs201059253
• ExAC: 6:79735301 T / C
• gnomAD v2: 6-79735301-T-C
• gnomAD v3: 6-79025584-T-C
• gnomAD v4: 6-79025584-T-C
• MyVariant Identifiers: chr6:g.79735301T>C (hg19) ; chr6:g.79025584T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79025584T>C , CM000668.2:g.79025584T>C	GRCh38
NC_000006.11:g.79735301T>C , CM000668.1:g.79735301T>C	GRCh37
NC_000006.10:g.79792020T>C	NCBI36
NG_051932.1:g.57715A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000700012.1:c.876A>G	ENSP00000514753.1:p.Leu292=
ENST00000700013.1:c.876A>G	ENSP00000514754.1:p.Leu292=
ENST00000700114.1:c.798A>G	ENSP00000514808.1:p.Leu266=
ENST00000700115.1:c.858A>G	ENSP00000514809.1:p.Leu286=
ENST00000700118.1:c.858A>G	ENSP00000514810.1:p.Leu286=
ENST00000700119.1:c.*669A>G	ENSP00000514811.1:n.*669A>G
ENST00000275034.5:c.858A>G MANE Select	ENSP00000275034.3:p.Leu286=
ENST00000275034.4:c.858A>G	ENSP00000275034.3:p.Leu286=
NM_017934.5:c.858A>G	NP_060404.3:p.Leu286=
XM_005248729.3:c.858A>G	XP_005248786.1:p.Leu286=
XM_011535917.1:c.858A>G	XP_011534219.1:p.Leu286=
XM_011535918.1:c.342A>G	XP_011534220.1:p.Leu114=
XM_011535919.1:c.858A>G	XP_011534221.1:p.Leu286=
XR_942499.1:n.1084A>G
NM_017934.6:c.858A>G	NP_060404.4:p.Leu286=
XM_005248729.5:c.858A>G	XP_005248786.1:p.Leu286=
XM_011535918.3:c.342A>G	XP_011534220.1:p.Leu114=
XM_017010989.2:c.-872A>G	XP_016866478.1:n.-872A>G
XM_017010990.2:c.-872A>G	XP_016866479.1:n.-872A>G
NM_017934.7:c.858A>G MANE Select	NP_060404.4:p.Leu286=