Canonical Allele Identifier: CA7060157

Gene: F7

Linked Data

• ClinVar Variation Id: 2540360
• ClinVar RCV Id: RCV003271732
• dbSNP Id: rs6045
• ExAC: 13:113772805 T / A
• gnomAD v2: 13-113772805-T-A
• gnomAD v3: 13-113118491-T-A
• gnomAD v4: 13-113118491-T-A
• MyVariant Identifiers: chr13:g.113772805T>A (hg19) ; chr13:g.113118491T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118491T>A , CM000675.2:g.113118491T>A	GRCh38
NC_000013.10:g.113772805T>A , CM000675.1:g.113772805T>A	GRCh37
NC_000013.9:g.112820806T>A	NCBI36
NG_009258.1:g.693T>A , LRG_548:g.693T>A
NG_009262.1:g.17701T>A , LRG_554:g.17701T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.818T>A MANE Select	ENSP00000329546.4:p.Val273Asp
ENST00000346342.7:c.818T>A	ENSP00000329546.3:p.Val273Asp
ENST00000375581.3:c.884T>A	ENSP00000364731.3:p.Val295Asp
ENST00000541084.5:c.632T>A	ENSP00000442051.2:p.Val211Asp
NM_000131.4:c.884T>A , LRG_554t1:c.884T>A	NP_000122.1:p.Val295Asp
NM_001267554.1:c.632T>A	NP_001254483.1:p.Val211Asp
NM_019616.3:c.818T>A , LRG_554t2:c.818T>A	NP_062562.1:p.Val273Asp
NR_051961.1:n.905T>A
XM_006719963.2:c.677T>A	XP_006720026.1:p.Val226Asp
XM_011537474.1:c.926T>A	XP_011535776.1:p.Val309Asp
XM_011537475.1:c.740T>A	XP_011535777.1:p.Val247Asp
XM_011537476.1:c.578T>A	XP_011535778.1:p.Val193Asp
XM_011537477.1:c.887T>A	XP_011535779.1:p.Val296Asp
XM_006719963.3:c.722T>A	XP_006720026.2:p.Val241Asp
XM_011537474.2:c.971T>A	XP_011535776.2:p.Val324Asp
XM_011537475.2:c.785T>A	XP_011535777.2:p.Val262Asp
XM_011537476.2:c.578T>A	XP_011535778.1:p.Val193Asp
NM_019616.4:c.818T>A MANE Select	NP_062562.1:p.Val273Asp
NR_051961.2:n.902T>A
NM_001267554.2:c.632T>A	NP_001254483.1:p.Val211Asp