Canonical Allele Identifier: CA7060125

Gene: F7

Linked Data

• ClinVar Variation Id: 2573368
• ClinVar RCV Id: RCV003317704
• dbSNP Id: rs531916165
• ExAC: 13:113772729 G / A
• gnomAD v2: 13-113772729-G-A
• gnomAD v3: 13-113118415-G-A
• gnomAD v4: 13-113118415-G-A
• COSMIC: COSM5757815 ; COSM5757816
• MyVariant Identifiers: chr13:g.113772729G>A (hg19) ; chr13:g.113118415G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118415G>A , CM000675.2:g.113118415G>A	GRCh38
NC_000013.10:g.113772729G>A , CM000675.1:g.113772729G>A	GRCh37
NC_000013.9:g.112820730G>A	NCBI36
NG_009258.1:g.617G>A , LRG_548:g.617G>A
NG_009262.1:g.17625G>A , LRG_554:g.17625G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.742G>A MANE Select	ENSP00000329546.4:p.Glu248Lys
ENST00000346342.7:c.742G>A	ENSP00000329546.3:p.Glu248Lys
ENST00000375581.3:c.808G>A	ENSP00000364731.3:p.Glu270Lys
ENST00000541084.5:c.556G>A	ENSP00000442051.2:p.Glu186Lys
NM_000131.4:c.808G>A , LRG_554t1:c.808G>A	NP_000122.1:p.Glu270Lys
NM_001267554.1:c.556G>A	NP_001254483.1:p.Glu186Lys
NM_019616.3:c.742G>A , LRG_554t2:c.742G>A	NP_062562.1:p.Glu248Lys
NR_051961.1:n.829G>A
XM_006719963.2:c.601G>A	XP_006720026.1:p.Glu201Lys
XM_011537474.1:c.850G>A	XP_011535776.1:p.Glu284Lys
XM_011537475.1:c.664G>A	XP_011535777.1:p.Glu222Lys
XM_011537476.1:c.502G>A	XP_011535778.1:p.Glu168Lys
XM_011537477.1:c.811G>A	XP_011535779.1:p.Glu271Lys
XM_006719963.3:c.646G>A	XP_006720026.2:p.Glu216Lys
XM_011537474.2:c.895G>A	XP_011535776.2:p.Glu299Lys
XM_011537475.2:c.709G>A	XP_011535777.2:p.Glu237Lys
XM_011537476.2:c.502G>A	XP_011535778.1:p.Glu168Lys
NM_019616.4:c.742G>A MANE Select	NP_062562.1:p.Glu248Lys
NR_051961.2:n.826G>A
NM_001267554.2:c.556G>A	NP_001254483.1:p.Glu186Lys