Canonical Allele Identifier: CA256461525

Gene: F7

Linked Data

• dbSNP Id: rs6043
• gnomAD v4: 13-113118501-C-T
• MyVariant Identifiers: chr13:g.113772815C>T (hg19) ; chr13:g.113118501C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118501C>T , CM000675.2:g.113118501C>T	GRCh38
NC_000013.10:g.113772815C>T , CM000675.1:g.113772815C>T	GRCh37
NC_000013.9:g.112820816C>T	NCBI36
NG_009258.1:g.703C>T , LRG_548:g.703C>T
NG_009262.1:g.17711C>T , LRG_554:g.17711C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.828C>T MANE Select	ENSP00000329546.4:p.Thr276=
ENST00000346342.7:c.828C>T	ENSP00000329546.3:p.Thr276=
ENST00000375581.3:c.894C>T	ENSP00000364731.3:p.Thr298=
ENST00000541084.5:c.642C>T	ENSP00000442051.2:p.Thr214=
NM_000131.4:c.894C>T , LRG_554t1:c.894C>T	NP_000122.1:p.Thr298=
NM_001267554.1:c.642C>T	NP_001254483.1:p.Thr214=
NM_019616.3:c.828C>T , LRG_554t2:c.828C>T	NP_062562.1:p.Thr276=
NR_051961.1:n.915C>T
XM_006719963.2:c.687C>T	XP_006720026.1:p.Thr229=
XM_011537474.1:c.936C>T	XP_011535776.1:p.Thr312=
XM_011537475.1:c.750C>T	XP_011535777.1:p.Thr250=
XM_011537476.1:c.588C>T	XP_011535778.1:p.Thr196=
XM_011537477.1:c.897C>T	XP_011535779.1:p.Thr299=
XM_006719963.3:c.732C>T	XP_006720026.2:p.Thr244=
XM_011537474.2:c.981C>T	XP_011535776.2:p.Thr327=
XM_011537475.2:c.795C>T	XP_011535777.2:p.Thr265=
XM_011537476.2:c.588C>T	XP_011535778.1:p.Thr196=
NM_019616.4:c.828C>T MANE Select	NP_062562.1:p.Thr276=
NR_051961.2:n.912C>T
NM_001267554.2:c.642C>T	NP_001254483.1:p.Thr214=