Canonical Allele Identifier: CA4304234

Gene: POR

Linked Data

• ClinVar Variation Id: 1517022
• ClinVar RCV Id: RCV002040984
• dbSNP Id: rs377723544
• ExAC: 7:75615225 G / A
• gnomAD v2: 7-75615225-G-A
• gnomAD v3: 7-75985907-G-A
• gnomAD v4: 7-75985907-G-A
• MyVariant Identifiers: chr7:g.75615225G>A (hg19) ; chr7:g.75985907G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75985907G>A , CM000669.2:g.75985907G>A	GRCh38
NC_000007.13:g.75615225G>A , CM000669.1:g.75615225G>A	GRCh37
NC_000007.12:g.75453161G>A	NCBI36
NG_008930.1:g.75806G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1445-16G>A	ENSP00000516446.1:n.1445-16G>A
ENST00000706544.1:c.1571-16G>A	ENSP00000516442.1:n.1571-16G>A
ENST00000706545.1:c.1670-16G>A	ENSP00000516443.1:n.1670-16G>A
ENST00000706546.1:c.1670-16G>A	ENSP00000516444.1:n.1670-16G>A
ENST00000706547.1:c.1670-16G>A	ENSP00000516445.1:n.1670-16G>A
ENST00000461988.6:c.1670-16G>A MANE Select	ENSP00000419970.1:n.1670-16G>A
ENST00000394893.5:c.1670-16G>A	ENSP00000378355.1:n.1670-16G>A
ENST00000412064.6:c.*109-153G>A	ENSP00000404731.2:n.*109-153G>A
ENST00000439269.1:c.884-16G>A	ENSP00000412490.1:n.884-16G>A
ENST00000447222.5:c.1821-16G>A
ENST00000454934.5:c.*975-16G>A	ENSP00000414263.1:n.*975-16G>A
ENST00000461988.5:c.1670-16G>A	ENSP00000419970.1:n.1670-16G>A
ENST00000493973.1:n.281-16G>A
NM_000941.2:c.1670-16G>A	NP_000932.3:n.1670-16G>A
NM_000941.3:c.1670-16G>A	NP_000932.3:n.1670-16G>A
NM_001367562.1:c.1670-16G>A	NP_001354491.1:n.1670-16G>A
NM_001382655.1:c.1724-16G>A	NP_001369584.1:n.1724-16G>A
NM_001382657.1:c.1670-16G>A	NP_001369586.1:n.1670-16G>A
NM_001382658.1:c.1670-16G>A	NP_001369587.1:n.1670-16G>A
NM_001382659.1:c.1670-16G>A	NP_001369588.1:n.1670-16G>A
NM_001382662.1:c.1520-16G>A	NP_001369591.1:n.1520-16G>A
NM_001367562.3:c.1661-16G>A	NP_001354491.2:n.1661-16G>A
NM_001382655.3:c.1715-16G>A	NP_001369584.2:n.1715-16G>A
NM_001382657.2:c.1661-16G>A	NP_001369586.2:n.1661-16G>A
NM_001382658.3:c.1661-16G>A	NP_001369587.2:n.1661-16G>A
NM_001382659.3:c.1661-16G>A	NP_001369588.2:n.1661-16G>A
NM_001382662.3:c.1511-16G>A	NP_001369591.2:n.1511-16G>A
NM_001395413.1:c.1661-16G>A MANE Select	NP_001382342.1:n.1661-16G>A