Canonical Allele Identifier: CA5967148

Gene: F2

Linked Data

• dbSNP Id: rs772282966
• ExAC: 11:46748219 G / C
• gnomAD v2: 11-46748219-G-C
• gnomAD v3: 11-46726669-G-C
• gnomAD v4: 11-46726669-G-C
• MyVariant Identifiers: chr11:g.46748219G>C (hg19) ; chr11:g.46726669G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726669G>C , CM000673.2:g.46726669G>C	GRCh38
NC_000011.9:g.46748219G>C , CM000673.1:g.46748219G>C	GRCh37
NC_000011.8:g.46704795G>C	NCBI36
NG_008953.1:g.12477G>C , LRG_551:g.12477G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000311907.10:c.1004-42G>C MANE Select	ENSP00000308541.5:n.1004-42G>C
ENST00000311907.9:c.1004-42G>C	ENSP00000308541.5:n.1004-42G>C
ENST00000530231.5:c.1004-42G>C	ENSP00000433907.1:n.1004-42G>C
NM_000506.3:c.1004-42G>C	NP_000497.1:n.1004-42G>C
NM_000506.4:c.1004-42G>C , LRG_551t1:c.1004-42G>C	NP_000497.1:n.1004-42G>C
NM_001311257.1:c.956-42G>C	NP_001298186.1:n.956-42G>C
XR_428840.2:n.1048-42G>C
XR_428840.4:n.1039-42G>C
NM_000506.5:c.1004-42G>C MANE Select	NP_000497.1:n.1004-42G>C
NM_001311257.2:c.956-42G>C	NP_001298186.1:n.956-42G>C