Canonical Allele Identifier: CA388786419

Gene: F7

Linked Data

• dbSNP Id: rs1191666857
• MyVariant Identifiers: chr13:g.113773058C>G (hg19) ; chr13:g.113118744C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118744C>G , CM000675.2:g.113118744C>G	GRCh38
NC_000013.10:g.113773058C>G , CM000675.1:g.113773058C>G	GRCh37
NC_000013.9:g.112821059C>G	NCBI36
NG_009258.1:g.946C>G , LRG_548:g.946C>G
NG_009262.1:g.17954C>G , LRG_554:g.17954C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1071C>G MANE Select	ENSP00000329546.4:p.Asp357Glu
ENST00000346342.7:c.1071C>G	ENSP00000329546.3:p.Asp357Glu
ENST00000375581.3:c.1137C>G	ENSP00000364731.3:p.Asp379Glu
ENST00000541084.5:c.885C>G	ENSP00000442051.2:p.Asp295Glu
NM_000131.4:c.1137C>G , LRG_554t1:c.1137C>G	NP_000122.1:p.Asp379Glu
NM_001267554.1:c.885C>G	NP_001254483.1:p.Asp295Glu
NM_019616.3:c.1071C>G , LRG_554t2:c.1071C>G	NP_062562.1:p.Asp357Glu
NR_051961.1:n.1158C>G
XM_006719963.2:c.930C>G	XP_006720026.1:p.Asp310Glu
XM_011537474.1:c.1179C>G	XP_011535776.1:p.Asp393Glu
XM_011537475.1:c.993C>G	XP_011535777.1:p.Asp331Glu
XM_011537476.1:c.831C>G	XP_011535778.1:p.Asp277Glu
XM_011537477.1:c.1140C>G	XP_011535779.1:p.Asp380Glu
XM_006719963.3:c.975C>G	XP_006720026.2:p.Asp325Glu
XM_011537474.2:c.1224C>G	XP_011535776.2:p.Asp408Glu
XM_011537475.2:c.1038C>G	XP_011535777.2:p.Asp346Glu
XM_011537476.2:c.831C>G	XP_011535778.1:p.Asp277Glu
NM_019616.4:c.1071C>G MANE Select	NP_062562.1:p.Asp357Glu
NR_051961.2:n.1155C>G
NM_001267554.2:c.885C>G	NP_001254483.1:p.Asp295Glu