Canonical Allele Identifier: CA2632821340

Gene: VKORC1

Linked Data

• gnomAD v4: 16-31090990-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31090990T>G , CM000678.2:g.31090990T>G	GRCh38
NC_000016.9:g.31102311T>G , CM000678.1:g.31102311T>G	GRCh37
NC_000016.8:g.31009812T>G	NCBI36
NG_011564.1:g.8966A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394975.3:c.*144A>C MANE Select	ENSP00000378426.2:n.*144A>C
ENST00000300851.10:c.*247A>C	ENSP00000300851.6:n.*247A>C
ENST00000319788.11:c.*247A>C	ENSP00000326135.7:n.*247A>C
ENST00000354895.4:c.*247A>C	ENSP00000346969.4:n.*247A>C
ENST00000394975.2:c.*144A>C	ENSP00000378426.2:n.*144A>C
ENST00000420057.2:c.598A>C
ENST00000529564.1:c.283+2322A>C	ENSP00000431371.1:n.283+2322A>C
ENST00000532364.1:c.173+3567A>C	ENSP00000460316.1:n.173+3567A>C
ENST00000533518.5:c.407+102A>C
NM_001311311.1:c.*144A>C	NP_001298240.1:n.*144A>C
NM_024006.4:c.*144A>C	NP_076869.1:n.*144A>C
NM_024006.5:c.*144A>C	NP_076869.1:n.*144A>C
NM_206824.1:c.*247A>C	NP_996560.1:n.*247A>C
NM_206824.2:c.*247A>C	NP_996560.1:n.*247A>C
XM_011545944.1:c.*144A>C	XP_011544246.1:n.*144A>C
XM_011545945.1:c.*247A>C	XP_011544247.1:n.*247A>C
XR_950848.1:n.1424A>C
NM_024006.6:c.*144A>C MANE Select	NP_076869.1:n.*144A>C
NM_001311311.2:c.*144A>C	NP_001298240.1:n.*144A>C
NM_206824.3:c.*247A>C	NP_996560.1:n.*247A>C