Canonical Allele Identifier: CA5967065

Gene: F2

Linked Data

• dbSNP Id: rs769400310
• ExAC: 11:46747707 C / T
• gnomAD v2: 11-46747707-C-T
• gnomAD v4: 11-46726157-C-T
• MyVariant Identifiers: chr11:g.46747707C>T (hg19) ; chr11:g.46726157C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726157C>T , CM000673.2:g.46726157C>T	GRCh38
NC_000011.9:g.46747707C>T , CM000673.1:g.46747707C>T	GRCh37
NC_000011.8:g.46704283C>T	NCBI36
NG_008953.1:g.11965C>T , LRG_551:g.11965C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.858C>T MANE Select	ENSP00000308541.5:p.Cys286=
ENST00000311907.9:c.858C>T	ENSP00000308541.5:p.Cys286=
ENST00000442468.1:c.828C>T	ENSP00000387413.1:p.Cys276=
ENST00000530231.5:c.858C>T	ENSP00000433907.1:p.Cys286=
NM_000506.3:c.858C>T	NP_000497.1:p.Cys286=
NM_000506.4:c.858C>T , LRG_551t1:c.858C>T	NP_000497.1:p.Cys286=
NM_001311257.1:c.810C>T	NP_001298186.1:p.Cys270=
XR_428840.2:n.902C>T
XR_428840.4:n.893C>T
NM_000506.5:c.858C>T MANE Select	NP_000497.1:p.Cys286=
NM_001311257.2:c.810C>T	NP_001298186.1:p.Cys270=