Canonical Allele Identifier: CA388787174

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113773281G>T (hg19) ; chr13:g.113118967G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118967G>T , CM000675.2:g.113118967G>T	GRCh38
NC_000013.10:g.113773281G>T , CM000675.1:g.113773281G>T	GRCh37
NC_000013.9:g.112821282G>T	NCBI36
NG_009258.1:g.1169G>T , LRG_548:g.1169G>T
NG_009262.1:g.18177G>T , LRG_554:g.18177G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1294G>T MANE Select	ENSP00000329546.4:p.Glu432Ter
ENST00000346342.7:c.1294G>T	ENSP00000329546.3:p.Glu432Ter
ENST00000375581.3:c.1360G>T	ENSP00000364731.3:p.Glu454Ter
ENST00000541084.5:c.1108G>T	ENSP00000442051.2:p.Glu370Ter
NM_000131.4:c.1360G>T , LRG_554t1:c.1360G>T	NP_000122.1:p.Glu454Ter
NM_001267554.1:c.1108G>T	NP_001254483.1:p.Glu370Ter
NM_019616.3:c.1294G>T , LRG_554t2:c.1294G>T	NP_062562.1:p.Glu432Ter
NR_051961.1:n.1381G>T
XM_006719963.2:c.1153G>T	XP_006720026.1:p.Glu385Ter
XM_011537474.1:c.1402G>T	XP_011535776.1:p.Glu468Ter
XM_011537475.1:c.1216G>T	XP_011535777.1:p.Glu406Ter
XM_011537476.1:c.1054G>T	XP_011535778.1:p.Glu352Ter
XM_011537477.1:c.1363G>T	XP_011535779.1:p.Glu455Ter
XM_006719963.3:c.1198G>T	XP_006720026.2:p.Glu400Ter
XM_011537474.2:c.1447G>T	XP_011535776.2:p.Glu483Ter
XM_011537475.2:c.1261G>T	XP_011535777.2:p.Glu421Ter
XM_011537476.2:c.1054G>T	XP_011535778.1:p.Glu352Ter
NM_019616.4:c.1294G>T MANE Select	NP_062562.1:p.Glu432Ter
NR_051961.2:n.1378G>T
NM_001267554.2:c.1108G>T	NP_001254483.1:p.Glu370Ter