Canonical Allele Identifier: CA4304035

Gene: POR

Linked Data

• ClinVar Variation Id: 618842
• ClinVar RCV Id: RCV000757682 ; RCV001164199
• dbSNP Id: rs41301424
• ExAC: 7:75614264 C / T
• gnomAD v2: 7-75614264-C-T
• gnomAD v3: 7-75984946-C-T
• gnomAD v4: 7-75984946-C-T
• MyVariant Identifiers: chr7:g.75614264C>T (hg19) ; chr7:g.75984946C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75984946C>T , CM000669.2:g.75984946C>T	GRCh38
NC_000007.13:g.75614264C>T , CM000669.1:g.75614264C>T	GRCh37
NC_000007.12:g.75452200C>T	NCBI36
NG_008930.1:g.74845C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475509.2:c.1011C>T	ENSP00000516446.1:p.Ser337=
ENST00000706544.1:c.1137C>T	ENSP00000516442.1:p.Ser379=
ENST00000706545.1:c.1236C>T	ENSP00000516443.1:p.Ser412=
ENST00000706546.1:c.1236C>T	ENSP00000516444.1:p.Ser412=
ENST00000706547.1:c.1236C>T	ENSP00000516445.1:p.Ser412=
ENST00000461988.6:c.1236C>T MANE Select	ENSP00000419970.1:p.Ser412=
ENST00000394893.5:c.1236C>T	ENSP00000378355.1:p.Ser412=
ENST00000412064.6:c.*109-1114C>T	ENSP00000404731.2:n.*109-1114C>T
ENST00000439269.1:c.450C>T	ENSP00000412490.1:p.Ser150=
ENST00000447222.5:c.1387C>T
ENST00000454934.5:c.*541C>T	ENSP00000414263.1:n.*541C>T
ENST00000461988.5:c.1236C>T	ENSP00000419970.1:p.Ser412=
ENST00000487247.5:n.591C>T
ENST00000495770.1:n.238C>T
ENST00000496888.5:n.610C>T
NM_000941.2:c.1236C>T	NP_000932.3:p.Ser412=
NM_000941.3:c.1236C>T	NP_000932.3:p.Ser412=
NM_001367562.1:c.1236C>T	NP_001354491.1:p.Ser412=
NM_001382655.1:c.1290C>T	NP_001369584.1:p.Ser430=
NM_001382657.1:c.1236C>T	NP_001369586.1:p.Ser412=
NM_001382658.1:c.1236C>T	NP_001369587.1:p.Ser412=
NM_001382659.1:c.1236C>T	NP_001369588.1:p.Ser412=
NM_001382662.1:c.1236C>T	NP_001369591.1:p.Ser412=
NM_001367562.3:c.1227C>T	NP_001354491.2:p.Ser409=
NM_001382655.3:c.1281C>T	NP_001369584.2:p.Ser427=
NM_001382657.2:c.1227C>T	NP_001369586.2:p.Ser409=
NM_001382658.3:c.1227C>T	NP_001369587.2:p.Ser409=
NM_001382659.3:c.1227C>T	NP_001369588.2:p.Ser409=
NM_001382662.3:c.1227C>T	NP_001369591.2:p.Ser409=
NM_001395413.1:c.1227C>T MANE Select	NP_001382342.1:p.Ser409=