Canonical Allele Identifier: CA256461508

Gene: F7

Linked Data

• ClinVar Variation Id: 2364529
• ClinVar RCV Id: RCV002984443
• dbSNP Id: rs959914744
• gnomAD v2: 13-113772804-G-A
• gnomAD v3: 13-113118490-G-A
• gnomAD v4: 13-113118490-G-A
• MyVariant Identifiers: chr13:g.113772804G>A (hg19) ; chr13:g.113118490G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118490G>A , CM000675.2:g.113118490G>A	GRCh38
NC_000013.10:g.113772804G>A , CM000675.1:g.113772804G>A	GRCh37
NC_000013.9:g.112820805G>A	NCBI36
NG_009258.1:g.692G>A , LRG_548:g.692G>A
NG_009262.1:g.17700G>A , LRG_554:g.17700G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.817G>A MANE Select	ENSP00000329546.4:p.Val273Ile
ENST00000346342.7:c.817G>A	ENSP00000329546.3:p.Val273Ile
ENST00000375581.3:c.883G>A	ENSP00000364731.3:p.Val295Ile
ENST00000541084.5:c.631G>A	ENSP00000442051.2:p.Val211Ile
NM_000131.4:c.883G>A , LRG_554t1:c.883G>A	NP_000122.1:p.Val295Ile
NM_001267554.1:c.631G>A	NP_001254483.1:p.Val211Ile
NM_019616.3:c.817G>A , LRG_554t2:c.817G>A	NP_062562.1:p.Val273Ile
NR_051961.1:n.904G>A
XM_006719963.2:c.676G>A	XP_006720026.1:p.Val226Ile
XM_011537474.1:c.925G>A	XP_011535776.1:p.Val309Ile
XM_011537475.1:c.739G>A	XP_011535777.1:p.Val247Ile
XM_011537476.1:c.577G>A	XP_011535778.1:p.Val193Ile
XM_011537477.1:c.886G>A	XP_011535779.1:p.Val296Ile
XM_006719963.3:c.721G>A	XP_006720026.2:p.Val241Ile
XM_011537474.2:c.970G>A	XP_011535776.2:p.Val324Ile
XM_011537475.2:c.784G>A	XP_011535777.2:p.Val262Ile
XM_011537476.2:c.577G>A	XP_011535778.1:p.Val193Ile
NM_019616.4:c.817G>A MANE Select	NP_062562.1:p.Val273Ile
NR_051961.2:n.901G>A
NM_001267554.2:c.631G>A	NP_001254483.1:p.Val211Ile