Canonical Allele Identifier: CA7060172

Gene: F7

Linked Data

• ClinVar Variation Id: 1677255
• ClinVar RCV Id: RCV002223106
• dbSNP Id: rs201991361
• ExAC: 13:113772855 G / A
• gnomAD v2: 13-113772855-G-A
• gnomAD v3: 13-113118541-G-A
• gnomAD v4: 13-113118541-G-A
• MyVariant Identifiers: chr13:g.113772855G>A (hg19) ; chr13:g.113118541G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118541G>A , CM000675.2:g.113118541G>A	GRCh38
NC_000013.10:g.113772855G>A , CM000675.1:g.113772855G>A	GRCh37
NC_000013.9:g.112820856G>A	NCBI36
NG_009258.1:g.743G>A , LRG_548:g.743G>A
NG_009262.1:g.17751G>A , LRG_554:g.17751G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.868G>A MANE Select	ENSP00000329546.4:p.Val290Met
ENST00000346342.7:c.868G>A	ENSP00000329546.3:p.Val290Met
ENST00000375581.3:c.934G>A	ENSP00000364731.3:p.Val312Met
ENST00000541084.5:c.682G>A	ENSP00000442051.2:p.Val228Met
NM_000131.4:c.934G>A , LRG_554t1:c.934G>A	NP_000122.1:p.Val312Met
NM_001267554.1:c.682G>A	NP_001254483.1:p.Val228Met
NM_019616.3:c.868G>A , LRG_554t2:c.868G>A	NP_062562.1:p.Val290Met
NR_051961.1:n.955G>A
XM_006719963.2:c.727G>A	XP_006720026.1:p.Val243Met
XM_011537474.1:c.976G>A	XP_011535776.1:p.Val326Met
XM_011537475.1:c.790G>A	XP_011535777.1:p.Val264Met
XM_011537476.1:c.628G>A	XP_011535778.1:p.Val210Met
XM_011537477.1:c.937G>A	XP_011535779.1:p.Val313Met
XM_006719963.3:c.772G>A	XP_006720026.2:p.Val258Met
XM_011537474.2:c.1021G>A	XP_011535776.2:p.Val341Met
XM_011537475.2:c.835G>A	XP_011535777.2:p.Val279Met
XM_011537476.2:c.628G>A	XP_011535778.1:p.Val210Met
NM_019616.4:c.868G>A MANE Select	NP_062562.1:p.Val290Met
NR_051961.2:n.952G>A
NM_001267554.2:c.682G>A	NP_001254483.1:p.Val228Met