Canonical Allele Identifier: CA380265232

Gene: F2

Linked Data

• gnomAD v4: 11-46726030-C-T
• MyVariant Identifiers: chr11:g.46747580C>T (hg19) ; chr11:g.46726030C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726030C>T , CM000673.2:g.46726030C>T	GRCh38
NC_000011.9:g.46747580C>T , CM000673.1:g.46747580C>T	GRCh37
NC_000011.8:g.46704156C>T	NCBI36
NG_008953.1:g.11838C>T , LRG_551:g.11838C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.731C>T MANE Select	ENSP00000308541.5:p.Ala244Val
ENST00000311907.9:c.731C>T	ENSP00000308541.5:p.Ala244Val
ENST00000442468.1:c.701C>T	ENSP00000387413.1:p.Ala234Val
ENST00000490274.1:n.511C>T
ENST00000530231.5:c.731C>T	ENSP00000433907.1:p.Ala244Val
NM_000506.3:c.731C>T	NP_000497.1:p.Ala244Val
NM_000506.4:c.731C>T , LRG_551t1:c.731C>T	NP_000497.1:p.Ala244Val
NM_001311257.1:c.683C>T	NP_001298186.1:p.Ala228Val
XR_428840.2:n.775C>T
XR_428840.4:n.766C>T
NM_000506.5:c.731C>T MANE Select	NP_000497.1:p.Ala244Val
NM_001311257.2:c.683C>T	NP_001298186.1:p.Ala228Val