Canonical Allele Identifier: CA8021194
Community Standard Title: NM_024006.6(VKORC1):c.203A>G (p.His68Arg)
Gene: VKORC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31093392T>C , CM000678.2:g.31093392T>C GRCh38
NC_000016.9:g.31104713T>C , CM000678.1:g.31104713T>C GRCh37
NC_000016.8:g.31012214T>C NCBI36
NG_011564.1:g.6564A>G

Transcript Alleles

HGVS Amino-acid Change
NM_024006.6:c.203A>G MANE Select NP_076869.1:p.His68Arg
ENST00000394975.3:c.203A>G MANE Select ENSP00000378426.2:p.His68Arg
NM_001311311.1:c.203A>G NP_001298240.1:p.His68Arg
NM_001311311.2:c.203A>G NP_001298240.1:p.His68Arg
NM_024006.4:c.203A>G NP_076869.1:p.His68Arg
NM_024006.5:c.203A>G NP_076869.1:p.His68Arg
NM_206824.1:c.173+1165A>G NP_996560.1:n.173+1165A>G
NM_206824.2:c.173+1165A>G NP_996560.1:n.173+1165A>G
NM_206824.3:c.173+1165A>G NP_996560.1:n.173+1165A>G
ENST00000300851.10:c.264A>G ENSP00000300851.6:p.Ala88=
ENST00000319788.11:c.203A>G ENSP00000326135.7:p.His68Arg
ENST00000354895.4:c.173+1165A>G ENSP00000346969.4:n.173+1165A>G
ENST00000394971.7:c.297A>G ENSP00000378422.3:p.Ala99=
ENST00000394975.2:c.203A>G ENSP00000378426.2:p.His68Arg
ENST00000420057.2:c.245+1997A>G
ENST00000472468.1:c.-113A>G ENSP00000458994.1:n.-113A>G
ENST00000498155.1:c.300A>G ENSP00000417662.1:p.Ala100=
ENST00000529564.1:c.203A>G ENSP00000431371.1:p.His68Arg
ENST00000532364.1:c.173+1165A>G ENSP00000460316.1:n.173+1165A>G
ENST00000533518.5:c.76A>G
XM_011545944.1:c.203A>G XP_011544246.1:p.His68Arg
XM_011545945.1:c.173+1165A>G XP_011544247.1:n.173+1165A>G
XR_950848.1:n.991A>G