Canonical Allele Identifier: CA7060129

Gene: F7

Linked Data

• dbSNP Id: rs759295211
• ExAC: 13:113772741 A / G
• gnomAD v2: 13-113772741-A-G
• gnomAD v3: 13-113118427-A-G
• gnomAD v4: 13-113118427-A-G
• MyVariant Identifiers: chr13:g.113772741A>G (hg19) ; chr13:g.113118427A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118427A>G , CM000675.2:g.113118427A>G	GRCh38
NC_000013.10:g.113772741A>G , CM000675.1:g.113772741A>G	GRCh37
NC_000013.9:g.112820742A>G	NCBI36
NG_009258.1:g.629A>G , LRG_548:g.629A>G
NG_009262.1:g.17637A>G , LRG_554:g.17637A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.754A>G MANE Select	ENSP00000329546.4:p.Ser252Gly
ENST00000346342.7:c.754A>G	ENSP00000329546.3:p.Ser252Gly
ENST00000375581.3:c.820A>G	ENSP00000364731.3:p.Ser274Gly
ENST00000541084.5:c.568A>G	ENSP00000442051.2:p.Ser190Gly
NM_000131.4:c.820A>G , LRG_554t1:c.820A>G	NP_000122.1:p.Ser274Gly
NM_001267554.1:c.568A>G	NP_001254483.1:p.Ser190Gly
NM_019616.3:c.754A>G , LRG_554t2:c.754A>G	NP_062562.1:p.Ser252Gly
NR_051961.1:n.841A>G
XM_006719963.2:c.613A>G	XP_006720026.1:p.Ser205Gly
XM_011537474.1:c.862A>G	XP_011535776.1:p.Ser288Gly
XM_011537475.1:c.676A>G	XP_011535777.1:p.Ser226Gly
XM_011537476.1:c.514A>G	XP_011535778.1:p.Ser172Gly
XM_011537477.1:c.823A>G	XP_011535779.1:p.Ser275Gly
XM_006719963.3:c.658A>G	XP_006720026.2:p.Ser220Gly
XM_011537474.2:c.907A>G	XP_011535776.2:p.Ser303Gly
XM_011537475.2:c.721A>G	XP_011535777.2:p.Ser241Gly
XM_011537476.2:c.514A>G	XP_011535778.1:p.Ser172Gly
NM_019616.4:c.754A>G MANE Select	NP_062562.1:p.Ser252Gly
NR_051961.2:n.838A>G
NM_001267554.2:c.568A>G	NP_001254483.1:p.Ser190Gly