Canonical Allele Identifier: CA388785805

Gene: F7

Linked Data

• gnomAD v4: 13-113118432-G-T
• MyVariant Identifiers: chr13:g.113772746G>T (hg19) ; chr13:g.113118432G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118432G>T , CM000675.2:g.113118432G>T	GRCh38
NC_000013.10:g.113772746G>T , CM000675.1:g.113772746G>T	GRCh37
NC_000013.9:g.112820747G>T	NCBI36
NG_009258.1:g.634G>T , LRG_548:g.634G>T
NG_009262.1:g.17642G>T , LRG_554:g.17642G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.759G>T MANE Select	ENSP00000329546.4:p.Glu253Asp
ENST00000346342.7:c.759G>T	ENSP00000329546.3:p.Glu253Asp
ENST00000375581.3:c.825G>T	ENSP00000364731.3:p.Glu275Asp
ENST00000541084.5:c.573G>T	ENSP00000442051.2:p.Glu191Asp
NM_000131.4:c.825G>T , LRG_554t1:c.825G>T	NP_000122.1:p.Glu275Asp
NM_001267554.1:c.573G>T	NP_001254483.1:p.Glu191Asp
NM_019616.3:c.759G>T , LRG_554t2:c.759G>T	NP_062562.1:p.Glu253Asp
NR_051961.1:n.846G>T
XM_006719963.2:c.618G>T	XP_006720026.1:p.Glu206Asp
XM_011537474.1:c.867G>T	XP_011535776.1:p.Glu289Asp
XM_011537475.1:c.681G>T	XP_011535777.1:p.Glu227Asp
XM_011537476.1:c.519G>T	XP_011535778.1:p.Glu173Asp
XM_011537477.1:c.828G>T	XP_011535779.1:p.Glu276Asp
XM_006719963.3:c.663G>T	XP_006720026.2:p.Glu221Asp
XM_011537474.2:c.912G>T	XP_011535776.2:p.Glu304Asp
XM_011537475.2:c.726G>T	XP_011535777.2:p.Glu242Asp
XM_011537476.2:c.519G>T	XP_011535778.1:p.Glu173Asp
NM_019616.4:c.759G>T MANE Select	NP_062562.1:p.Glu253Asp
NR_051961.2:n.843G>T
NM_001267554.2:c.573G>T	NP_001254483.1:p.Glu191Asp