Canonical Allele Identifier: CA380269143

Gene: F2

Linked Data

• gnomAD v4: 11-46728007-T-A
• MyVariant Identifiers: chr11:g.46749557T>A (hg19) ; chr11:g.46728007T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46728007T>A , CM000673.2:g.46728007T>A	GRCh38
NC_000011.9:g.46749557T>A , CM000673.1:g.46749557T>A	GRCh37
NC_000011.8:g.46706133T>A	NCBI36
NG_008953.1:g.13815T>A , LRG_551:g.13815T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.1142T>A MANE Select	ENSP00000308541.5:p.Leu381His
ENST00000311907.9:c.1142T>A	ENSP00000308541.5:p.Leu381His
ENST00000530231.5:c.1142T>A	ENSP00000433907.1:p.Leu381His
NM_000506.3:c.1142T>A	NP_000497.1:p.Leu381His
NM_000506.4:c.1142T>A , LRG_551t1:c.1142T>A	NP_000497.1:p.Leu381His
NM_001311257.1:c.1094T>A	NP_001298186.1:p.Leu365His
XR_428840.2:n.1186T>A
XR_428840.4:n.1177T>A
NM_000506.5:c.1142T>A MANE Select	NP_000497.1:p.Leu381His
NM_001311257.2:c.1094T>A	NP_001298186.1:p.Leu365His