Canonical Allele Identifier: CA4303994

Gene: POR

Linked Data

• ClinVar Variation Id: 2724956
• ClinVar RCV Id: RCV003518485
• dbSNP Id: rs200986397
• ExAC: 7:75614144 G / A
• gnomAD v2: 7-75614144-G-A
• gnomAD v3: 7-75984826-G-A
• gnomAD v4: 7-75984826-G-A
• MyVariant Identifiers: chr7:g.75614144G>A (hg19) ; chr7:g.75984826G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984826G>A , CM000669.2:g.75984826G>A	GRCh38
NC_000007.13:g.75614144G>A , CM000669.1:g.75614144G>A	GRCh37
NC_000007.12:g.75452080G>A	NCBI36
NG_008930.1:g.74725G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.891G>A	ENSP00000516446.1:p.Thr297=
ENST00000706544.1:c.1017G>A	ENSP00000516442.1:p.Thr339=
ENST00000706545.1:c.1116G>A	ENSP00000516443.1:p.Thr372=
ENST00000706546.1:c.1116G>A	ENSP00000516444.1:p.Thr372=
ENST00000706547.1:c.1116G>A	ENSP00000516445.1:p.Thr372=
ENST00000461988.6:c.1116G>A MANE Select	ENSP00000419970.1:p.Thr372=
ENST00000394893.5:c.1116G>A	ENSP00000378355.1:p.Thr372=
ENST00000412064.6:c.*108+1190G>A	ENSP00000404731.2:n.*108+1190G>A
ENST00000439269.1:c.330G>A	ENSP00000412490.1:p.Thr110=
ENST00000447222.5:c.1267G>A
ENST00000454934.5:c.*421G>A	ENSP00000414263.1:n.*421G>A
ENST00000461988.5:c.1116G>A	ENSP00000419970.1:p.Thr372=
ENST00000487247.5:n.471G>A
ENST00000495770.1:n.118G>A
ENST00000496888.5:n.490G>A
NM_000941.2:c.1116G>A	NP_000932.3:p.Thr372=
NM_000941.3:c.1116G>A	NP_000932.3:p.Thr372=
NM_001367562.1:c.1116G>A	NP_001354491.1:p.Thr372=
NM_001382655.1:c.1170G>A	NP_001369584.1:p.Thr390=
NM_001382657.1:c.1116G>A	NP_001369586.1:p.Thr372=
NM_001382658.1:c.1116G>A	NP_001369587.1:p.Thr372=
NM_001382659.1:c.1116G>A	NP_001369588.1:p.Thr372=
NM_001382662.1:c.1116G>A	NP_001369591.1:p.Thr372=
NM_001367562.3:c.1107G>A	NP_001354491.2:p.Thr369=
NM_001382655.3:c.1161G>A	NP_001369584.2:p.Thr387=
NM_001382657.2:c.1107G>A	NP_001369586.2:p.Thr369=
NM_001382658.3:c.1107G>A	NP_001369587.2:p.Thr369=
NM_001382659.3:c.1107G>A	NP_001369588.2:p.Thr369=
NM_001382662.3:c.1107G>A	NP_001369591.2:p.Thr369=
NM_001395413.1:c.1107G>A MANE Select	NP_001382342.1:p.Thr369=