Canonical Allele Identifier: CA257659

Gene: POR

Linked Data

• ClinVar Variation Id: 16905
• ClinVar RCV Id: RCV000018404
• dbSNP Id: rs786205099
• gnomAD v4: 7-75981607-G-A
• MyVariant Identifiers: chr7:g.75610925G>A (hg19) ; chr7:g.75981607G>A (hg38)
• PubMed: PMID:14758361

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75981607G>A , CM000669.2:g.75981607G>A	GRCh38
NC_000007.13:g.75610925G>A , CM000669.1:g.75610925G>A	GRCh37
NC_000007.12:g.75448861G>A	NCBI36
NG_008930.1:g.71506G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000475509.2:c.506+1G>A	ENSP00000516446.1:n.506+1G>A
ENST00000706544.1:c.731+1G>A	ENSP00000516442.1:n.731+1G>A
ENST00000706545.1:c.731+1G>A	ENSP00000516443.1:n.731+1G>A
ENST00000706546.1:c.731+1G>A	ENSP00000516444.1:n.731+1G>A
ENST00000706547.1:c.731+1G>A	ENSP00000516445.1:n.731+1G>A
ENST00000461988.6:c.731+1G>A MANE Select	ENSP00000419970.1:n.731+1G>A
ENST00000394893.5:c.731+1G>A	ENSP00000378355.1:n.731+1G>A
ENST00000412064.6:c.566+510G>A	ENSP00000404731.2:n.566+510G>A
ENST00000447222.5:c.882+1G>A
ENST00000454934.5:c.*36+1G>A	ENSP00000414263.1:n.*36+1G>A
ENST00000460892.1:n.331+1G>A
ENST00000461988.5:c.731+1G>A	ENSP00000419970.1:n.731+1G>A
NM_000941.2:c.731+1G>A	NP_000932.3:n.731+1G>A
NM_000941.3:c.731+1G>A	NP_000932.3:n.731+1G>A
NM_001367562.1:c.731+1G>A	NP_001354491.1:n.731+1G>A
NM_001382655.1:c.785+1G>A	NP_001369584.1:n.785+1G>A
NM_001382657.1:c.731+1G>A	NP_001369586.1:n.731+1G>A
NM_001382658.1:c.731+1G>A	NP_001369587.1:n.731+1G>A
NM_001382659.1:c.731+1G>A	NP_001369588.1:n.731+1G>A
NM_001382662.1:c.731+1G>A	NP_001369591.1:n.731+1G>A
NM_001367562.3:c.722+1G>A	NP_001354491.2:n.722+1G>A
NM_001382655.3:c.776+1G>A	NP_001369584.2:n.776+1G>A
NM_001382657.2:c.722+1G>A	NP_001369586.2:n.722+1G>A
NM_001382658.3:c.722+1G>A	NP_001369587.2:n.722+1G>A
NM_001382659.3:c.722+1G>A	NP_001369588.2:n.722+1G>A
NM_001382662.3:c.722+1G>A	NP_001369591.2:n.722+1G>A
NM_001395413.1:c.722+1G>A MANE Select	NP_001382342.1:n.722+1G>A