Canonical Allele Identifier: CA395729679
Gene: VKORC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091250A>C , CM000678.2:g.31091250A>C GRCh38
NC_000016.9:g.31102571A>C , CM000678.1:g.31102571A>C GRCh37
NC_000016.8:g.31010072A>C NCBI36
NG_011564.1:g.8706T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000394975.3:c.376T>G MANE Select ENSP00000378426.2:p.Phe126Val
ENST00000300851.10:c.437T>G ENSP00000300851.6:p.Leu146Arg
ENST00000319788.11:c.458T>G ENSP00000326135.7:p.Leu153Arg
ENST00000354895.4:c.266T>G ENSP00000346969.4:p.Leu89Arg
ENST00000394971.7:c.470T>G ENSP00000378422.3:p.Leu157Arg
ENST00000394975.2:c.376T>G ENSP00000378426.2:p.Phe126Val
ENST00000420057.2:c.338T>G
ENST00000472468.1:c.61T>G ENSP00000458994.1:p.Phe21Val
ENST00000498155.1:c.473T>G ENSP00000417662.1:p.Leu158Arg
ENST00000529564.1:c.283+2062T>G ENSP00000431371.1:n.283+2062T>G
ENST00000532364.1:c.173+3307T>G ENSP00000460316.1:n.173+3307T>G
ENST00000533518.5:c.249T>G
NM_001311311.1:c.460T>G NP_001298240.1:p.Phe154Val
NM_024006.4:c.376T>G NP_076869.1:p.Phe126Val
NM_024006.5:c.376T>G NP_076869.1:p.Phe126Val
NM_206824.1:c.266T>G NP_996560.1:p.Leu89Arg
NM_206824.2:c.266T>G NP_996560.1:p.Leu89Arg
XM_011545944.1:c.376T>G XP_011544246.1:p.Phe126Val
XM_011545945.1:c.266T>G XP_011544247.1:p.Leu89Arg
XR_950848.1:n.1164T>G
NM_024006.6:c.376T>G MANE Select NP_076869.1:p.Phe126Val
NM_001311311.2:c.460T>G NP_001298240.1:p.Phe154Val
NM_206824.3:c.266T>G NP_996560.1:p.Leu89Arg