Canonical Allele Identifier: CA4303794

Gene: POR

Linked Data

• dbSNP Id: rs200838726
• ExAC: 7:75610947 G / C
• gnomAD v2: 7-75610947-G-C
• gnomAD v3: 7-75981629-G-C
• gnomAD v4: 7-75981629-G-C
• MyVariant Identifiers: chr7:g.75610947G>C (hg19) ; chr7:g.75981629G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75981629G>C , CM000669.2:g.75981629G>C	GRCh38
NC_000007.13:g.75610947G>C , CM000669.1:g.75610947G>C	GRCh37
NC_000007.12:g.75448883G>C	NCBI36
NG_008930.1:g.71528G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.506+23G>C	ENSP00000516446.1:n.506+23G>C
ENST00000706544.1:c.731+23G>C	ENSP00000516442.1:n.731+23G>C
ENST00000706545.1:c.731+23G>C	ENSP00000516443.1:n.731+23G>C
ENST00000706546.1:c.731+23G>C	ENSP00000516444.1:n.731+23G>C
ENST00000706547.1:c.731+23G>C	ENSP00000516445.1:n.731+23G>C
ENST00000461988.6:c.731+23G>C MANE Select	ENSP00000419970.1:n.731+23G>C
ENST00000394893.5:c.731+23G>C	ENSP00000378355.1:n.731+23G>C
ENST00000412064.6:c.566+532G>C	ENSP00000404731.2:n.566+532G>C
ENST00000447222.5:c.882+23G>C
ENST00000454934.5:c.*36+23G>C	ENSP00000414263.1:n.*36+23G>C
ENST00000460892.1:n.331+23G>C
ENST00000461988.5:c.731+23G>C	ENSP00000419970.1:n.731+23G>C
NM_000941.2:c.731+23G>C	NP_000932.3:n.731+23G>C
NM_000941.3:c.731+23G>C	NP_000932.3:n.731+23G>C
NM_001367562.1:c.731+23G>C	NP_001354491.1:n.731+23G>C
NM_001382655.1:c.785+23G>C	NP_001369584.1:n.785+23G>C
NM_001382657.1:c.731+23G>C	NP_001369586.1:n.731+23G>C
NM_001382658.1:c.731+23G>C	NP_001369587.1:n.731+23G>C
NM_001382659.1:c.731+23G>C	NP_001369588.1:n.731+23G>C
NM_001382662.1:c.731+23G>C	NP_001369591.1:n.731+23G>C
NM_001367562.3:c.722+23G>C	NP_001354491.2:n.722+23G>C
NM_001382655.3:c.776+23G>C	NP_001369584.2:n.776+23G>C
NM_001382657.2:c.722+23G>C	NP_001369586.2:n.722+23G>C
NM_001382658.3:c.722+23G>C	NP_001369587.2:n.722+23G>C
NM_001382659.3:c.722+23G>C	NP_001369588.2:n.722+23G>C
NM_001382662.3:c.722+23G>C	NP_001369591.2:n.722+23G>C
NM_001395413.1:c.722+23G>C MANE Select	NP_001382342.1:n.722+23G>C