Canonical Allele Identifier: CA395729605
Gene: VKORC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091233G>T , CM000678.2:g.31091233G>T GRCh38
NC_000016.9:g.31102554G>T , CM000678.1:g.31102554G>T GRCh37
NC_000016.8:g.31010055G>T NCBI36
NG_011564.1:g.8723C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394975.3:c.393C>A MANE Select ENSP00000378426.2:p.Phe131Leu
ENST00000300851.10:c.*4C>A ENSP00000300851.6:n.*4C>A
ENST00000319788.11:c.*4C>A ENSP00000326135.7:n.*4C>A
ENST00000354895.4:c.*4C>A ENSP00000346969.4:n.*4C>A
ENST00000394971.7:c.*4C>A ENSP00000378422.3:n.*4C>A
ENST00000394975.2:c.393C>A ENSP00000378426.2:p.Phe131Leu
ENST00000420057.2:c.355C>A
ENST00000472468.1:c.78C>A ENSP00000458994.1:p.Phe26Leu
ENST00000498155.1:c.*4C>A ENSP00000417662.1:n.*4C>A
ENST00000529564.1:c.283+2079C>A ENSP00000431371.1:n.283+2079C>A
ENST00000532364.1:c.173+3324C>A ENSP00000460316.1:n.173+3324C>A
ENST00000533518.5:c.266C>A
NM_001311311.1:c.477C>A NP_001298240.1:p.Phe159Leu
NM_024006.4:c.393C>A NP_076869.1:p.Phe131Leu
NM_024006.5:c.393C>A NP_076869.1:p.Phe131Leu
NM_206824.1:c.*4C>A NP_996560.1:n.*4C>A
NM_206824.2:c.*4C>A NP_996560.1:n.*4C>A
XM_011545944.1:c.393C>A XP_011544246.1:p.Phe131Leu
XM_011545945.1:c.*4C>A XP_011544247.1:n.*4C>A
XR_950848.1:n.1181C>A
NM_024006.6:c.393C>A MANE Select NP_076869.1:p.Phe131Leu
NM_001311311.2:c.477C>A NP_001298240.1:p.Phe159Leu
NM_206824.3:c.*4C>A NP_996560.1:n.*4C>A