Canonical Allele Identifier: CA388785795

Gene: F7

Linked Data

• gnomAD v4: 13-113118428-G-T
• MyVariant Identifiers: chr13:g.113772742G>T (hg19) ; chr13:g.113118428G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118428G>T , CM000675.2:g.113118428G>T	GRCh38
NC_000013.10:g.113772742G>T , CM000675.1:g.113772742G>T	GRCh37
NC_000013.9:g.112820743G>T	NCBI36
NG_009258.1:g.630G>T , LRG_548:g.630G>T
NG_009262.1:g.17638G>T , LRG_554:g.17638G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000346342.8:c.755G>T MANE Select	ENSP00000329546.4:p.Ser252Ile
ENST00000346342.7:c.755G>T	ENSP00000329546.3:p.Ser252Ile
ENST00000375581.3:c.821G>T	ENSP00000364731.3:p.Ser274Ile
ENST00000541084.5:c.569G>T	ENSP00000442051.2:p.Ser190Ile
NM_000131.4:c.821G>T , LRG_554t1:c.821G>T	NP_000122.1:p.Ser274Ile
NM_001267554.1:c.569G>T	NP_001254483.1:p.Ser190Ile
NM_019616.3:c.755G>T , LRG_554t2:c.755G>T	NP_062562.1:p.Ser252Ile
NR_051961.1:n.842G>T
XM_006719963.2:c.614G>T	XP_006720026.1:p.Ser205Ile
XM_011537474.1:c.863G>T	XP_011535776.1:p.Ser288Ile
XM_011537475.1:c.677G>T	XP_011535777.1:p.Ser226Ile
XM_011537476.1:c.515G>T	XP_011535778.1:p.Ser172Ile
XM_011537477.1:c.824G>T	XP_011535779.1:p.Ser275Ile
XM_006719963.3:c.659G>T	XP_006720026.2:p.Ser220Ile
XM_011537474.2:c.908G>T	XP_011535776.2:p.Ser303Ile
XM_011537475.2:c.722G>T	XP_011535777.2:p.Ser241Ile
XM_011537476.2:c.515G>T	XP_011535778.1:p.Ser172Ile
NM_019616.4:c.755G>T MANE Select	NP_062562.1:p.Ser252Ile
NR_051961.2:n.839G>T
NM_001267554.2:c.569G>T	NP_001254483.1:p.Ser190Ile