Canonical Allele Identifier: CA4304004

Gene: POR

Linked Data

• dbSNP Id: rs781879415
• ExAC: 7:75614182 G / A
• gnomAD v2: 7-75614182-G-A
• gnomAD v3: 7-75984864-G-A
• gnomAD v4: 7-75984864-G-A
• COSMIC: COSM6454146 ; COSM6454147
• MyVariant Identifiers: chr7:g.75614182G>A (hg19) ; chr7:g.75984864G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984864G>A , CM000669.2:g.75984864G>A	GRCh38
NC_000007.13:g.75614182G>A , CM000669.1:g.75614182G>A	GRCh37
NC_000007.12:g.75452118G>A	NCBI36
NG_008930.1:g.74763G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.929G>A	ENSP00000516446.1:p.Arg310His
ENST00000706544.1:c.1055G>A	ENSP00000516442.1:p.Arg352His
ENST00000706545.1:c.1154G>A	ENSP00000516443.1:p.Arg385His
ENST00000706546.1:c.1154G>A	ENSP00000516444.1:p.Arg385His
ENST00000706547.1:c.1154G>A	ENSP00000516445.1:p.Arg385His
ENST00000461988.6:c.1154G>A MANE Select	ENSP00000419970.1:p.Arg385His
ENST00000394893.5:c.1154G>A	ENSP00000378355.1:p.Arg385His
ENST00000412064.6:c.*109-1196G>A	ENSP00000404731.2:n.*109-1196G>A
ENST00000439269.1:c.368G>A	ENSP00000412490.1:p.Arg123His
ENST00000447222.5:c.1305G>A
ENST00000454934.5:c.*459G>A	ENSP00000414263.1:n.*459G>A
ENST00000461988.5:c.1154G>A	ENSP00000419970.1:p.Arg385His
ENST00000487247.5:n.509G>A
ENST00000495770.1:n.156G>A
ENST00000496888.5:n.528G>A
NM_000941.2:c.1154G>A	NP_000932.3:p.Arg385His
NM_000941.3:c.1154G>A	NP_000932.3:p.Arg385His
NM_001367562.1:c.1154G>A	NP_001354491.1:p.Arg385His
NM_001382655.1:c.1208G>A	NP_001369584.1:p.Arg403His
NM_001382657.1:c.1154G>A	NP_001369586.1:p.Arg385His
NM_001382658.1:c.1154G>A	NP_001369587.1:p.Arg385His
NM_001382659.1:c.1154G>A	NP_001369588.1:p.Arg385His
NM_001382662.1:c.1154G>A	NP_001369591.1:p.Arg385His
NM_001367562.3:c.1145G>A	NP_001354491.2:p.Arg382His
NM_001382655.3:c.1199G>A	NP_001369584.2:p.Arg400His
NM_001382657.2:c.1145G>A	NP_001369586.2:p.Arg382His
NM_001382658.3:c.1145G>A	NP_001369587.2:p.Arg382His
NM_001382659.3:c.1145G>A	NP_001369588.2:p.Arg382His
NM_001382662.3:c.1145G>A	NP_001369591.2:p.Arg382His
NM_001395413.1:c.1145G>A MANE Select	NP_001382342.1:p.Arg382His