Canonical Allele Identifier: CA388787246

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113773321A>T (hg19) ; chr13:g.113119007A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113119007A>T , CM000675.2:g.113119007A>T	GRCh38
NC_000013.10:g.113773321A>T , CM000675.1:g.113773321A>T	GRCh37
NC_000013.9:g.112821322A>T	NCBI36
NG_009258.1:g.1209A>T , LRG_548:g.1209A>T
NG_009262.1:g.18217A>T , LRG_554:g.18217A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1334A>T MANE Select	ENSP00000329546.4:p.Ter445Leu
ENST00000346342.7:c.1334A>T	ENSP00000329546.3:p.Ter445Leu
ENST00000375581.3:c.1400A>T	ENSP00000364731.3:p.Ter467Leu
ENST00000541084.5:c.1148A>T	ENSP00000442051.2:p.Ter383Leu
NM_000131.4:c.1400A>T , LRG_554t1:c.1400A>T	NP_000122.1:p.Ter467Leu
NM_001267554.1:c.1148A>T	NP_001254483.1:p.Ter383Leu
NM_019616.3:c.1334A>T , LRG_554t2:c.1334A>T	NP_062562.1:p.Ter445Leu
NR_051961.1:n.1421A>T
XM_006719963.2:c.1193A>T	XP_006720026.1:p.Ter398Leu
XM_011537474.1:c.1442A>T	XP_011535776.1:p.Ter481Leu
XM_011537475.1:c.1256A>T	XP_011535777.1:p.Ter419Leu
XM_011537476.1:c.1094A>T	XP_011535778.1:p.Ter365Leu
XM_011537477.1:c.1403A>T	XP_011535779.1:p.Ter468Leu
XM_006719963.3:c.1238A>T	XP_006720026.2:p.Ter413Leu
XM_011537474.2:c.1487A>T	XP_011535776.2:p.Ter496Leu
XM_011537475.2:c.1301A>T	XP_011535777.2:p.Ter434Leu
XM_011537476.2:c.1094A>T	XP_011535778.1:p.Ter365Leu
NM_019616.4:c.1334A>T MANE Select	NP_062562.1:p.Ter445Leu
NR_051961.2:n.1418A>T
NM_001267554.2:c.1148A>T	NP_001254483.1:p.Ter383Leu