Canonical Allele Identifier: CA395729361
Gene: VKORC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31091188C>A , CM000678.2:g.31091188C>A GRCh38
NC_000016.9:g.31102509C>A , CM000678.1:g.31102509C>A GRCh37
NC_000016.8:g.31010010C>A NCBI36
NG_011564.1:g.8768G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394975.3:c.438G>T MANE Select ENSP00000378426.2:p.Met146Ile
ENST00000300851.10:c.*49G>T ENSP00000300851.6:n.*49G>T
ENST00000319788.11:c.*49G>T ENSP00000326135.7:n.*49G>T
ENST00000354895.4:c.*49G>T ENSP00000346969.4:n.*49G>T
ENST00000394971.7:c.*49G>T ENSP00000378422.3:n.*49G>T
ENST00000394975.2:c.438G>T ENSP00000378426.2:p.Met146Ile
ENST00000420057.2:c.400G>T
ENST00000472468.1:c.123G>T ENSP00000458994.1:p.Met41Ile
ENST00000498155.1:c.*49G>T ENSP00000417662.1:n.*49G>T
ENST00000529564.1:c.283+2124G>T ENSP00000431371.1:n.283+2124G>T
ENST00000532364.1:c.173+3369G>T ENSP00000460316.1:n.173+3369G>T
ENST00000533518.5:c.311G>T
NM_001311311.1:c.522G>T NP_001298240.1:p.Met174Ile
NM_024006.4:c.438G>T NP_076869.1:p.Met146Ile
NM_024006.5:c.438G>T NP_076869.1:p.Met146Ile
NM_206824.1:c.*49G>T NP_996560.1:n.*49G>T
NM_206824.2:c.*49G>T NP_996560.1:n.*49G>T
XM_011545944.1:c.438G>T XP_011544246.1:p.Met146Ile
XM_011545945.1:c.*49G>T XP_011544247.1:n.*49G>T
XR_950848.1:n.1226G>T
NM_024006.6:c.438G>T MANE Select NP_076869.1:p.Met146Ile
NM_001311311.2:c.522G>T NP_001298240.1:p.Met174Ile
NM_206824.3:c.*49G>T NP_996560.1:n.*49G>T