Canonical Allele Identifier: CA3900279

Gene: PHIP

Linked Data

• ClinVar Variation Id: 1972648
• ClinVar RCV Id: RCV002730674
• dbSNP Id: rs141326360
• ExAC: 6:79735216 G / A
• gnomAD v2: 6-79735216-G-A
• gnomAD v3: 6-79025499-G-A
• gnomAD v4: 6-79025499-G-A
• MyVariant Identifiers: chr6:g.79735216G>A (hg19) ; chr6:g.79025499G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79025499G>A , CM000668.2:g.79025499G>A	GRCh38
NC_000006.11:g.79735216G>A , CM000668.1:g.79735216G>A	GRCh37
NC_000006.10:g.79791935G>A	NCBI36
NG_051932.1:g.57800C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700012.1:c.941+20C>T	ENSP00000514753.1:n.941+20C>T
ENST00000700013.1:c.941+20C>T	ENSP00000514754.1:n.941+20C>T
ENST00000700114.1:c.863+20C>T	ENSP00000514808.1:n.863+20C>T
ENST00000700115.1:c.923+20C>T	ENSP00000514809.1:n.923+20C>T
ENST00000700118.1:c.923+20C>T	ENSP00000514810.1:n.923+20C>T
ENST00000700119.1:c.*734+20C>T	ENSP00000514811.1:n.*734+20C>T
ENST00000275034.5:c.923+20C>T MANE Select	ENSP00000275034.3:n.923+20C>T
ENST00000275034.4:c.923+20C>T	ENSP00000275034.3:n.923+20C>T
NM_017934.5:c.923+20C>T	NP_060404.3:n.923+20C>T
XM_005248729.3:c.923+20C>T	XP_005248786.1:n.923+20C>T
XM_011535917.1:c.923+20C>T	XP_011534219.1:n.923+20C>T
XM_011535918.1:c.407+20C>T	XP_011534220.1:n.407+20C>T
XM_011535919.1:c.923+20C>T	XP_011534221.1:n.923+20C>T
XR_942499.1:n.1149+20C>T
NM_017934.6:c.923+20C>T	NP_060404.4:n.923+20C>T
XM_005248729.5:c.923+20C>T	XP_005248786.1:n.923+20C>T
XM_011535918.3:c.407+20C>T	XP_011534220.1:n.407+20C>T
XM_017010989.2:c.-807+20C>T	XP_016866478.1:n.-807+20C>T
XM_017010990.2:c.-807+20C>T	XP_016866479.1:n.-807+20C>T
NM_017934.7:c.923+20C>T MANE Select	NP_060404.4:n.923+20C>T