Canonical Allele Identifier: CA380270153

Gene: F2

Linked Data

• dbSNP Id: rs1468606669
• gnomAD v2: 11-46749706-C-T
• gnomAD v4: 11-46728156-C-T
• COSMIC: COSM1638847
• MyVariant Identifiers: chr11:g.46749706C>T (hg19) ; chr11:g.46728156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46728156C>T , CM000673.2:g.46728156C>T	GRCh38
NC_000011.9:g.46749706C>T , CM000673.1:g.46749706C>T	GRCh37
NC_000011.8:g.46706282C>T	NCBI36
NG_008953.1:g.13964C>T , LRG_551:g.13964C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.1291C>T MANE Select	ENSP00000308541.5:p.Arg431Cys
ENST00000311907.9:c.1291C>T	ENSP00000308541.5:p.Arg431Cys
ENST00000530231.5:c.1291C>T	ENSP00000433907.1:p.Arg431Cys
NM_000506.3:c.1291C>T	NP_000497.1:p.Arg431Cys
NM_000506.4:c.1291C>T , LRG_551t1:c.1291C>T	NP_000497.1:p.Arg431Cys
NM_001311257.1:c.1243C>T	NP_001298186.1:p.Arg415Cys
XR_428840.2:n.1335C>T
XR_428840.4:n.1326C>T
NM_000506.5:c.1291C>T MANE Select	NP_000497.1:p.Arg431Cys
NM_001311257.2:c.1243C>T	NP_001298186.1:p.Arg415Cys