Canonical Allele Identifier: CA367749432

Gene: POR

Linked Data

• ClinVar Variation Id: 3064896
• ClinVar RCV Id: RCV003989973
• gnomAD v4: 7-75984903-A-C
• MyVariant Identifiers: chr7:g.75614221A>C (hg19) ; chr7:g.75984903A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984903A>C , CM000669.2:g.75984903A>C	GRCh38
NC_000007.13:g.75614221A>C , CM000669.1:g.75614221A>C	GRCh37
NC_000007.12:g.75452157A>C	NCBI36
NG_008930.1:g.74802A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.968A>C	ENSP00000516446.1:p.Glu323Ala
ENST00000706544.1:c.1094A>C	ENSP00000516442.1:p.Glu365Ala
ENST00000706545.1:c.1193A>C	ENSP00000516443.1:p.Glu398Ala
ENST00000706546.1:c.1193A>C	ENSP00000516444.1:p.Glu398Ala
ENST00000706547.1:c.1193A>C	ENSP00000516445.1:p.Glu398Ala
ENST00000461988.6:c.1193A>C MANE Select	ENSP00000419970.1:p.Glu398Ala
ENST00000394893.5:c.1193A>C	ENSP00000378355.1:p.Glu398Ala
ENST00000412064.6:c.*109-1157A>C	ENSP00000404731.2:n.*109-1157A>C
ENST00000439269.1:c.407A>C	ENSP00000412490.1:p.Glu136Ala
ENST00000447222.5:c.1344A>C
ENST00000454934.5:c.*498A>C	ENSP00000414263.1:n.*498A>C
ENST00000461988.5:c.1193A>C	ENSP00000419970.1:p.Glu398Ala
ENST00000487247.5:n.548A>C
ENST00000495770.1:n.195A>C
ENST00000496888.5:n.567A>C
NM_000941.2:c.1193A>C	NP_000932.3:p.Glu398Ala
NM_000941.3:c.1193A>C	NP_000932.3:p.Glu398Ala
NM_001367562.1:c.1193A>C	NP_001354491.1:p.Glu398Ala
NM_001382655.1:c.1247A>C	NP_001369584.1:p.Glu416Ala
NM_001382657.1:c.1193A>C	NP_001369586.1:p.Glu398Ala
NM_001382658.1:c.1193A>C	NP_001369587.1:p.Glu398Ala
NM_001382659.1:c.1193A>C	NP_001369588.1:p.Glu398Ala
NM_001382662.1:c.1193A>C	NP_001369591.1:p.Glu398Ala
NM_001367562.3:c.1184A>C	NP_001354491.2:p.Glu395Ala
NM_001382655.3:c.1238A>C	NP_001369584.2:p.Glu413Ala
NM_001382657.2:c.1184A>C	NP_001369586.2:p.Glu395Ala
NM_001382658.3:c.1184A>C	NP_001369587.2:p.Glu395Ala
NM_001382659.3:c.1184A>C	NP_001369588.2:p.Glu395Ala
NM_001382662.3:c.1184A>C	NP_001369591.2:p.Glu395Ala
NM_001395413.1:c.1184A>C MANE Select	NP_001382342.1:p.Glu395Ala