Canonical Allele Identifier: CA388782536

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113768269A>C (hg19) ; chr13:g.113113955A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113955A>C , CM000675.2:g.113113955A>C	GRCh38
NC_000013.10:g.113768269A>C , CM000675.1:g.113768269A>C	GRCh37
NC_000013.9:g.112816270A>C	NCBI36
NG_009262.1:g.13165A>C , LRG_554:g.13165A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.359A>C MANE Select	ENSP00000329546.4:p.Glu120Ala
ENST00000346342.7:c.359A>C	ENSP00000329546.3:p.Glu120Ala
ENST00000375581.3:c.425A>C	ENSP00000364731.3:p.Glu142Ala
ENST00000444337.1:c.*167A>C	ENSP00000387669.1:n.*167A>C
ENST00000473085.1:n.306A>C
ENST00000479674.1:n.692A>C
ENST00000541084.5:c.173A>C	ENSP00000442051.2:p.Glu58Ala
NM_000131.4:c.425A>C , LRG_554t1:c.425A>C	NP_000122.1:p.Glu142Ala
NM_001267554.1:c.173A>C	NP_001254483.1:p.Glu58Ala
NM_019616.3:c.359A>C , LRG_554t2:c.359A>C	NP_062562.1:p.Glu120Ala
NR_051961.1:n.446A>C
XM_006719963.2:c.359A>C	XP_006720026.1:p.Glu120Ala
XM_011537474.1:c.359A>C	XP_011535776.1:p.Glu120Ala
XM_011537475.1:c.173A>C	XP_011535777.1:p.Glu58Ala
XM_011537477.1:c.320A>C	XP_011535779.1:p.Glu107Ala
XM_006719963.3:c.404A>C	XP_006720026.2:p.Glu135Ala
XM_011537474.2:c.404A>C	XP_011535776.2:p.Glu135Ala
XM_011537475.2:c.218A>C	XP_011535777.2:p.Glu73Ala
NM_019616.4:c.359A>C MANE Select	NP_062562.1:p.Glu120Ala
NR_051961.2:n.443A>C
NM_001267554.2:c.173A>C	NP_001254483.1:p.Glu58Ala