Canonical Allele Identifier: CA388786278

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113772989G>T (hg19) ; chr13:g.113118675G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118675G>T , CM000675.2:g.113118675G>T	GRCh38
NC_000013.10:g.113772989G>T , CM000675.1:g.113772989G>T	GRCh37
NC_000013.9:g.112820990G>T	NCBI36
NG_009258.1:g.877G>T , LRG_548:g.877G>T
NG_009262.1:g.17885G>T , LRG_554:g.17885G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1002G>T MANE Select	ENSP00000329546.4:p.Glu334Asp
ENST00000346342.7:c.1002G>T	ENSP00000329546.3:p.Glu334Asp
ENST00000375581.3:c.1068G>T	ENSP00000364731.3:p.Glu356Asp
ENST00000541084.5:c.816G>T	ENSP00000442051.2:p.Glu272Asp
NM_000131.4:c.1068G>T , LRG_554t1:c.1068G>T	NP_000122.1:p.Glu356Asp
NM_001267554.1:c.816G>T	NP_001254483.1:p.Glu272Asp
NM_019616.3:c.1002G>T , LRG_554t2:c.1002G>T	NP_062562.1:p.Glu334Asp
NR_051961.1:n.1089G>T
XM_006719963.2:c.861G>T	XP_006720026.1:p.Glu287Asp
XM_011537474.1:c.1110G>T	XP_011535776.1:p.Glu370Asp
XM_011537475.1:c.924G>T	XP_011535777.1:p.Glu308Asp
XM_011537476.1:c.762G>T	XP_011535778.1:p.Glu254Asp
XM_011537477.1:c.1071G>T	XP_011535779.1:p.Glu357Asp
XM_006719963.3:c.906G>T	XP_006720026.2:p.Glu302Asp
XM_011537474.2:c.1155G>T	XP_011535776.2:p.Glu385Asp
XM_011537475.2:c.969G>T	XP_011535777.2:p.Glu323Asp
XM_011537476.2:c.762G>T	XP_011535778.1:p.Glu254Asp
NM_019616.4:c.1002G>T MANE Select	NP_062562.1:p.Glu334Asp
NR_051961.2:n.1086G>T
NM_001267554.2:c.816G>T	NP_001254483.1:p.Glu272Asp