Canonical Allele Identifier: CA473871687

Gene: F2

Linked Data

• gnomAD v4: 11-46728033-C-T
• MyVariant Identifiers: chr11:g.46749583C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46728033C>T , CM000673.2:g.46728033C>T	GRCh38
NC_000011.9:g.46749583C>T , CM000673.1:g.46749583C>T	GRCh37
NC_000011.8:g.46706159C>T	NCBI36
NG_008953.1:g.13841C>T , LRG_551:g.13841C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.1168C>T MANE Select	ENSP00000308541.5:p.Leu390=
ENST00000311907.9:c.1168C>T	ENSP00000308541.5:p.Leu390=
ENST00000530231.5:c.1168C>T	ENSP00000433907.1:p.Leu390=
NM_000506.3:c.1168C>T	NP_000497.1:p.Leu390=
NM_000506.4:c.1168C>T , LRG_551t1:c.1168C>T	NP_000497.1:p.Leu390=
NM_001311257.1:c.1120C>T	NP_001298186.1:p.Leu374=
XR_428840.2:n.1212C>T
XR_428840.4:n.1203C>T
NM_000506.5:c.1168C>T MANE Select	NP_000497.1:p.Leu390=
NM_001311257.2:c.1120C>T	NP_001298186.1:p.Leu374=