Canonical Allele Identifier: CA4304207

Gene: POR

Linked Data

• dbSNP Id: rs121912976
• ExAC: 7:75615113 G / C
• gnomAD v2: 7-75615113-G-C
• gnomAD v4: 7-75985795-G-C
• MyVariant Identifiers: chr7:g.75615113G>C (hg19) ; chr7:g.75985795G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985795G>C , CM000669.2:g.75985795G>C	GRCh38
NC_000007.13:g.75615113G>C , CM000669.1:g.75615113G>C	GRCh37
NC_000007.12:g.75453049G>C	NCBI36
NG_008930.1:g.75694G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000475509.2:c.1390G>C	ENSP00000516446.1:p.Gly464Arg
ENST00000706544.1:c.1516G>C	ENSP00000516442.1:p.Gly506Arg
ENST00000706545.1:c.1615G>C	ENSP00000516443.1:p.Gly539Arg
ENST00000706546.1:c.1615G>C	ENSP00000516444.1:p.Gly539Arg
ENST00000706547.1:c.1615G>C	ENSP00000516445.1:p.Gly539Arg
ENST00000461988.6:c.1615G>C MANE Select	ENSP00000419970.1:p.Gly539Arg
ENST00000394893.5:c.1615G>C	ENSP00000378355.1:p.Gly539Arg
ENST00000412064.6:c.*109-265G>C	ENSP00000404731.2:n.*109-265G>C
ENST00000439269.1:c.829G>C	ENSP00000412490.1:p.Gly277Arg
ENST00000447222.5:c.1766G>C
ENST00000454934.5:c.*920G>C	ENSP00000414263.1:n.*920G>C
ENST00000461988.5:c.1615G>C	ENSP00000419970.1:p.Gly539Arg
ENST00000493973.1:n.226G>C
NM_000941.2:c.1615G>C	NP_000932.3:p.Gly539Arg
NM_000941.3:c.1615G>C	NP_000932.3:p.Gly539Arg
NM_001367562.1:c.1615G>C	NP_001354491.1:p.Gly539Arg
NM_001382655.1:c.1669G>C	NP_001369584.1:p.Gly557Arg
NM_001382657.1:c.1615G>C	NP_001369586.1:p.Gly539Arg
NM_001382658.1:c.1615G>C	NP_001369587.1:p.Gly539Arg
NM_001382659.1:c.1615G>C	NP_001369588.1:p.Gly539Arg
NM_001382662.1:c.1465G>C	NP_001369591.1:p.Gly489Arg
NM_001367562.3:c.1606G>C	NP_001354491.2:p.Gly536Arg
NM_001382655.3:c.1660G>C	NP_001369584.2:p.Gly554Arg
NM_001382657.2:c.1606G>C	NP_001369586.2:p.Gly536Arg
NM_001382658.3:c.1606G>C	NP_001369587.2:p.Gly536Arg
NM_001382659.3:c.1606G>C	NP_001369588.2:p.Gly536Arg
NM_001382662.3:c.1456G>C	NP_001369591.2:p.Gly486Arg
NM_001395413.1:c.1606G>C MANE Select	NP_001382342.1:p.Gly536Arg