Canonical Allele Identifier: CA3900353

Gene: PHIP

Linked Data

• dbSNP Id: rs778945261
• ExAC: 6:79752647 C / G
• gnomAD v2: 6-79752647-C-G
• MyVariant Identifiers: chr6:g.79752647C>G (hg19) ; chr6:g.79042930C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79042930C>G , CM000668.2:g.79042930C>G	GRCh38
NC_000006.11:g.79752647C>G , CM000668.1:g.79752647C>G	GRCh37
NC_000006.10:g.79809366C>G	NCBI36
NG_051932.1:g.40369G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700012.1:c.531G>C	ENSP00000514753.1:p.Gln177His
ENST00000700013.1:c.531G>C	ENSP00000514754.1:p.Gln177His
ENST00000700114.1:c.453G>C	ENSP00000514808.1:p.Gln151His
ENST00000700115.1:c.513G>C	ENSP00000514809.1:p.Gln171His
ENST00000700118.1:c.513G>C	ENSP00000514810.1:p.Gln171His
ENST00000700119.1:c.*324G>C	ENSP00000514811.1:n.*324G>C
ENST00000700120.1:n.441G>C
ENST00000275034.5:c.513G>C MANE Select	ENSP00000275034.3:p.Gln171His
ENST00000275034.4:c.513G>C	ENSP00000275034.3:p.Gln171His
NM_017934.5:c.513G>C	NP_060404.3:p.Gln171His
XM_005248729.3:c.513G>C	XP_005248786.1:p.Gln171His
XM_011535917.1:c.513G>C	XP_011534219.1:p.Gln171His
XM_011535918.1:c.-4G>C	XP_011534220.1:n.-4G>C
XM_011535919.1:c.513G>C	XP_011534221.1:p.Gln171His
XR_942499.1:n.739G>C
NM_017934.6:c.513G>C	NP_060404.4:p.Gln171His
XM_005248729.5:c.513G>C	XP_005248786.1:p.Gln171His
XM_011535918.3:c.-4G>C	XP_011534220.1:n.-4G>C
XM_017010989.2:c.-1217G>C	XP_016866478.1:n.-1217G>C
XM_017010990.2:c.-1217G>C	XP_016866479.1:n.-1217G>C
NM_017934.7:c.513G>C MANE Select	NP_060404.4:p.Gln171His