Canonical Allele Identifier: CA380267121

Gene: F2

Linked Data

• gnomAD v4: 11-46726623-G-A
• MyVariant Identifiers: chr11:g.46748173G>A (hg19) ; chr11:g.46726623G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46726623G>A , CM000673.2:g.46726623G>A	GRCh38
NC_000011.9:g.46748173G>A , CM000673.1:g.46748173G>A	GRCh37
NC_000011.8:g.46704749G>A	NCBI36
NG_008953.1:g.12431G>A , LRG_551:g.12431G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.1000G>A MANE Select	ENSP00000308541.5:p.Ala334Thr
ENST00000311907.9:c.1000G>A	ENSP00000308541.5:p.Ala334Thr
ENST00000442468.1:c.970G>A	ENSP00000387413.1:p.Ala324Thr
ENST00000530231.5:c.1000G>A	ENSP00000433907.1:p.Ala334Thr
NM_000506.3:c.1000G>A	NP_000497.1:p.Ala334Thr
NM_000506.4:c.1000G>A , LRG_551t1:c.1000G>A	NP_000497.1:p.Ala334Thr
NM_001311257.1:c.952G>A	NP_001298186.1:p.Ala318Thr
XR_428840.2:n.1044G>A
XR_428840.4:n.1035G>A
NM_000506.5:c.1000G>A MANE Select	NP_000497.1:p.Ala334Thr
NM_001311257.2:c.952G>A	NP_001298186.1:p.Ala318Thr