Canonical Allele Identifier: CA395729696
Gene: VKORC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091253A>G , CM000678.2:g.31091253A>G GRCh38
NC_000016.9:g.31102574A>G , CM000678.1:g.31102574A>G GRCh37
NC_000016.8:g.31010075A>G NCBI36
NG_011564.1:g.8703T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000394975.3:c.373T>C MANE Select ENSP00000378426.2:p.Phe125Leu
ENST00000300851.10:c.434T>C ENSP00000300851.6:p.Val145Ala
ENST00000319788.11:c.455T>C ENSP00000326135.7:p.Val152Ala
ENST00000354895.4:c.263T>C ENSP00000346969.4:p.Val88Ala
ENST00000394971.7:c.467T>C ENSP00000378422.3:p.Val156Ala
ENST00000394975.2:c.373T>C ENSP00000378426.2:p.Phe125Leu
ENST00000420057.2:c.335T>C
ENST00000472468.1:c.58T>C ENSP00000458994.1:p.Phe20Leu
ENST00000498155.1:c.470T>C ENSP00000417662.1:p.Val157Ala
ENST00000529564.1:c.283+2059T>C ENSP00000431371.1:n.283+2059T>C
ENST00000532364.1:c.173+3304T>C ENSP00000460316.1:n.173+3304T>C
ENST00000533518.5:c.246T>C
NM_001311311.1:c.457T>C NP_001298240.1:p.Phe153Leu
NM_024006.4:c.373T>C NP_076869.1:p.Phe125Leu
NM_024006.5:c.373T>C NP_076869.1:p.Phe125Leu
NM_206824.1:c.263T>C NP_996560.1:p.Val88Ala
NM_206824.2:c.263T>C NP_996560.1:p.Val88Ala
XM_011545944.1:c.373T>C XP_011544246.1:p.Phe125Leu
XM_011545945.1:c.263T>C XP_011544247.1:p.Val88Ala
XR_950848.1:n.1161T>C
NM_024006.6:c.373T>C MANE Select NP_076869.1:p.Phe125Leu
NM_001311311.2:c.457T>C NP_001298240.1:p.Phe153Leu
NM_206824.3:c.263T>C NP_996560.1:p.Val88Ala