Canonical Allele Identifier: CA388782533

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113768268G>T (hg19) ; chr13:g.113113954G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113954G>T , CM000675.2:g.113113954G>T	GRCh38
NC_000013.10:g.113768268G>T , CM000675.1:g.113768268G>T	GRCh37
NC_000013.9:g.112816269G>T	NCBI36
NG_009262.1:g.13164G>T , LRG_554:g.13164G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.358G>T MANE Select	ENSP00000329546.4:p.Glu120Ter
ENST00000346342.7:c.358G>T	ENSP00000329546.3:p.Glu120Ter
ENST00000375581.3:c.424G>T	ENSP00000364731.3:p.Glu142Ter
ENST00000444337.1:c.*166G>T	ENSP00000387669.1:n.*166G>T
ENST00000473085.1:n.305G>T
ENST00000479674.1:n.691G>T
ENST00000541084.5:c.172G>T	ENSP00000442051.2:p.Glu58Ter
NM_000131.4:c.424G>T , LRG_554t1:c.424G>T	NP_000122.1:p.Glu142Ter
NM_001267554.1:c.172G>T	NP_001254483.1:p.Glu58Ter
NM_019616.3:c.358G>T , LRG_554t2:c.358G>T	NP_062562.1:p.Glu120Ter
NR_051961.1:n.445G>T
XM_006719963.2:c.358G>T	XP_006720026.1:p.Glu120Ter
XM_011537474.1:c.358G>T	XP_011535776.1:p.Glu120Ter
XM_011537475.1:c.172G>T	XP_011535777.1:p.Glu58Ter
XM_011537477.1:c.319G>T	XP_011535779.1:p.Glu107Ter
XM_006719963.3:c.403G>T	XP_006720026.2:p.Glu135Ter
XM_011537474.2:c.403G>T	XP_011535776.2:p.Glu135Ter
XM_011537475.2:c.217G>T	XP_011535777.2:p.Glu73Ter
NM_019616.4:c.358G>T MANE Select	NP_062562.1:p.Glu120Ter
NR_051961.2:n.442G>T
NM_001267554.2:c.172G>T	NP_001254483.1:p.Glu58Ter