Canonical Allele Identifier: CA395730108
Gene: VKORC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091339C>A , CM000678.2:g.31091339C>A GRCh38
NC_000016.9:g.31102660C>A , CM000678.1:g.31102660C>A GRCh37
NC_000016.8:g.31010161C>A NCBI36
NG_011564.1:g.8617G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000394975.3:c.287G>T MANE Select ENSP00000378426.2:p.Cys96Phe
ENST00000300851.10:c.348G>T ENSP00000300851.6:p.Leu116Phe
ENST00000319788.11:c.369G>T ENSP00000326135.7:p.Leu123Phe
ENST00000354895.4:c.177G>T ENSP00000346969.4:p.Leu59Phe
ENST00000394971.7:c.381G>T ENSP00000378422.3:p.Leu127Phe
ENST00000394975.2:c.287G>T ENSP00000378426.2:p.Cys96Phe
ENST00000420057.2:c.249G>T
ENST00000472468.1:c.-29G>T ENSP00000458994.1:n.-29G>T
ENST00000498155.1:c.384G>T ENSP00000417662.1:p.Leu128Phe
ENST00000529564.1:c.283+1973G>T ENSP00000431371.1:n.283+1973G>T
ENST00000532364.1:c.173+3218G>T ENSP00000460316.1:n.173+3218G>T
ENST00000533518.5:c.160G>T
NM_001311311.1:c.371G>T NP_001298240.1:p.Cys124Phe
NM_024006.4:c.287G>T NP_076869.1:p.Cys96Phe
NM_024006.5:c.287G>T NP_076869.1:p.Cys96Phe
NM_206824.1:c.177G>T NP_996560.1:p.Leu59Phe
NM_206824.2:c.177G>T NP_996560.1:p.Leu59Phe
XM_011545944.1:c.287G>T XP_011544246.1:p.Cys96Phe
XM_011545945.1:c.177G>T XP_011544247.1:p.Leu59Phe
XR_950848.1:n.1075G>T
NM_024006.6:c.287G>T MANE Select NP_076869.1:p.Cys96Phe
NM_001311311.2:c.371G>T NP_001298240.1:p.Cys124Phe
NM_206824.3:c.177G>T NP_996560.1:p.Leu59Phe