Canonical Allele Identifier: CA395730044
Gene: VKORC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091326G>C , CM000678.2:g.31091326G>C GRCh38
NC_000016.9:g.31102647G>C , CM000678.1:g.31102647G>C GRCh37
NC_000016.8:g.31010148G>C NCBI36
NG_011564.1:g.8630C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394975.3:c.300C>G MANE Select ENSP00000378426.2:p.Arg100=
ENST00000300851.10:c.361C>G ENSP00000300851.6:p.Leu121Val
ENST00000319788.11:c.382C>G ENSP00000326135.7:p.Leu128Val
ENST00000354895.4:c.190C>G ENSP00000346969.4:p.Leu64Val
ENST00000394971.7:c.394C>G ENSP00000378422.3:p.Leu132Val
ENST00000394975.2:c.300C>G ENSP00000378426.2:p.Arg100=
ENST00000420057.2:c.262C>G
ENST00000472468.1:c.-16C>G ENSP00000458994.1:n.-16C>G
ENST00000498155.1:c.397C>G ENSP00000417662.1:p.Leu133Val
ENST00000529564.1:c.283+1986C>G ENSP00000431371.1:n.283+1986C>G
ENST00000532364.1:c.173+3231C>G ENSP00000460316.1:n.173+3231C>G
ENST00000533518.5:c.173C>G
NM_001311311.1:c.384C>G NP_001298240.1:p.Arg128=
NM_024006.4:c.300C>G NP_076869.1:p.Arg100=
NM_024006.5:c.300C>G NP_076869.1:p.Arg100=
NM_206824.1:c.190C>G NP_996560.1:p.Leu64Val
NM_206824.2:c.190C>G NP_996560.1:p.Leu64Val
XM_011545944.1:c.300C>G XP_011544246.1:p.Arg100=
XM_011545945.1:c.190C>G XP_011544247.1:p.Leu64Val
XR_950848.1:n.1088C>G
NM_024006.6:c.300C>G MANE Select NP_076869.1:p.Arg100=
NM_001311311.2:c.384C>G NP_001298240.1:p.Arg128=
NM_206824.3:c.190C>G NP_996560.1:p.Leu64Val