Canonical Allele Identifier: CA7060146

Gene: F7

Linked Data

• dbSNP Id: rs758941912
• ExAC: 13:113772775 T / G
• gnomAD v2: 13-113772775-T-G
• gnomAD v4: 13-113118461-T-G
• MyVariant Identifiers: chr13:g.113772775T>G (hg19) ; chr13:g.113118461T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118461T>G , CM000675.2:g.113118461T>G	GRCh38
NC_000013.10:g.113772775T>G , CM000675.1:g.113772775T>G	GRCh37
NC_000013.9:g.112820776T>G	NCBI36
NG_009258.1:g.663T>G , LRG_548:g.663T>G
NG_009262.1:g.17671T>G , LRG_554:g.17671T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.788T>G MANE Select	ENSP00000329546.4:p.Val263Gly
ENST00000346342.7:c.788T>G	ENSP00000329546.3:p.Val263Gly
ENST00000375581.3:c.854T>G	ENSP00000364731.3:p.Val285Gly
ENST00000541084.5:c.602T>G	ENSP00000442051.2:p.Val201Gly
NM_000131.4:c.854T>G , LRG_554t1:c.854T>G	NP_000122.1:p.Val285Gly
NM_001267554.1:c.602T>G	NP_001254483.1:p.Val201Gly
NM_019616.3:c.788T>G , LRG_554t2:c.788T>G	NP_062562.1:p.Val263Gly
NR_051961.1:n.875T>G
XM_006719963.2:c.647T>G	XP_006720026.1:p.Val216Gly
XM_011537474.1:c.896T>G	XP_011535776.1:p.Val299Gly
XM_011537475.1:c.710T>G	XP_011535777.1:p.Val237Gly
XM_011537476.1:c.548T>G	XP_011535778.1:p.Val183Gly
XM_011537477.1:c.857T>G	XP_011535779.1:p.Val286Gly
XM_006719963.3:c.692T>G	XP_006720026.2:p.Val231Gly
XM_011537474.2:c.941T>G	XP_011535776.2:p.Val314Gly
XM_011537475.2:c.755T>G	XP_011535777.2:p.Val252Gly
XM_011537476.2:c.548T>G	XP_011535778.1:p.Val183Gly
NM_019616.4:c.788T>G MANE Select	NP_062562.1:p.Val263Gly
NR_051961.2:n.872T>G
NM_001267554.2:c.602T>G	NP_001254483.1:p.Val201Gly