Canonical Allele Identifier: CA380269755

Gene: F2

Linked Data

• dbSNP Id: rs1463946136
• gnomAD v2: 11-46749647-C-T
• gnomAD v3: 11-46728097-C-T
• gnomAD v4: 11-46728097-C-T
• MyVariant Identifiers: chr11:g.46749647C>T (hg19) ; chr11:g.46728097C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46728097C>T , CM000673.2:g.46728097C>T	GRCh38
NC_000011.9:g.46749647C>T , CM000673.1:g.46749647C>T	GRCh37
NC_000011.8:g.46706223C>T	NCBI36
NG_008953.1:g.13905C>T , LRG_551:g.13905C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.1232C>T MANE Select	ENSP00000308541.5:p.Pro411Leu
ENST00000311907.9:c.1232C>T	ENSP00000308541.5:p.Pro411Leu
ENST00000530231.5:c.1232C>T	ENSP00000433907.1:p.Pro411Leu
NM_000506.3:c.1232C>T	NP_000497.1:p.Pro411Leu
NM_000506.4:c.1232C>T , LRG_551t1:c.1232C>T	NP_000497.1:p.Pro411Leu
NM_001311257.1:c.1184C>T	NP_001298186.1:p.Pro395Leu
XR_428840.2:n.1276C>T
XR_428840.4:n.1267C>T
NM_000506.5:c.1232C>T MANE Select	NP_000497.1:p.Pro411Leu
NM_001311257.2:c.1184C>T	NP_001298186.1:p.Pro395Leu