Canonical Allele Identifier: CA380264667

Gene: F2

Linked Data

• gnomAD v4: 11-46725867-C-A
• MyVariant Identifiers: chr11:g.46747417C>A (hg19) ; chr11:g.46725867C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46725867C>A , CM000673.2:g.46725867C>A	GRCh38
NC_000011.9:g.46747417C>A , CM000673.1:g.46747417C>A	GRCh37
NC_000011.8:g.46703993C>A	NCBI36
NG_008953.1:g.11675C>A , LRG_551:g.11675C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.568C>A MANE Select	ENSP00000308541.5:p.Gln190Lys
ENST00000311907.9:c.568C>A	ENSP00000308541.5:p.Gln190Lys
ENST00000442468.1:c.538C>A	ENSP00000387413.1:p.Gln180Lys
ENST00000490274.1:n.348C>A
ENST00000530231.5:c.568C>A	ENSP00000433907.1:p.Gln190Lys
NM_000506.3:c.568C>A	NP_000497.1:p.Gln190Lys
NM_000506.4:c.568C>A , LRG_551t1:c.568C>A	NP_000497.1:p.Gln190Lys
NM_001311257.1:c.520C>A	NP_001298186.1:p.Gln174Lys
XR_428840.2:n.612C>A
XR_428840.4:n.603C>A
NM_000506.5:c.568C>A MANE Select	NP_000497.1:p.Gln190Lys
NM_001311257.2:c.520C>A	NP_001298186.1:p.Gln174Lys