Canonical Allele Identifier: CA599372347

Gene: F2

Linked Data

• dbSNP Id: rs1399062246
• gnomAD v2: 11-46748216-G-T
• gnomAD v3: 11-46726666-G-T
• gnomAD v4: 11-46726666-G-T
• MyVariant Identifiers: chr11:g.46748216G>T (hg19) ; chr11:g.46726666G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726666G>T , CM000673.2:g.46726666G>T	GRCh38
NC_000011.9:g.46748216G>T , CM000673.1:g.46748216G>T	GRCh37
NC_000011.8:g.46704792G>T	NCBI36
NG_008953.1:g.12474G>T , LRG_551:g.12474G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000311907.10:c.1003+40G>T MANE Select	ENSP00000308541.5:n.1003+40G>T
ENST00000311907.9:c.1003+40G>T	ENSP00000308541.5:n.1003+40G>T
ENST00000530231.5:c.1003+40G>T	ENSP00000433907.1:n.1003+40G>T
NM_000506.3:c.1003+40G>T	NP_000497.1:n.1003+40G>T
NM_000506.4:c.1003+40G>T , LRG_551t1:c.1003+40G>T	NP_000497.1:n.1003+40G>T
NM_001311257.1:c.955+40G>T	NP_001298186.1:n.955+40G>T
XR_428840.2:n.1047+40G>T
XR_428840.4:n.1038+40G>T
NM_000506.5:c.1003+40G>T MANE Select	NP_000497.1:n.1003+40G>T
NM_001311257.2:c.955+40G>T	NP_001298186.1:n.955+40G>T