Canonical Allele Identifier: CA388786272

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113772987G>C (hg19) ; chr13:g.113118673G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118673G>C , CM000675.2:g.113118673G>C	GRCh38
NC_000013.10:g.113772987G>C , CM000675.1:g.113772987G>C	GRCh37
NC_000013.9:g.112820988G>C	NCBI36
NG_009258.1:g.875G>C , LRG_548:g.875G>C
NG_009262.1:g.17883G>C , LRG_554:g.17883G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1000G>C MANE Select	ENSP00000329546.4:p.Glu334Gln
ENST00000346342.7:c.1000G>C	ENSP00000329546.3:p.Glu334Gln
ENST00000375581.3:c.1066G>C	ENSP00000364731.3:p.Glu356Gln
ENST00000541084.5:c.814G>C	ENSP00000442051.2:p.Glu272Gln
NM_000131.4:c.1066G>C , LRG_554t1:c.1066G>C	NP_000122.1:p.Glu356Gln
NM_001267554.1:c.814G>C	NP_001254483.1:p.Glu272Gln
NM_019616.3:c.1000G>C , LRG_554t2:c.1000G>C	NP_062562.1:p.Glu334Gln
NR_051961.1:n.1087G>C
XM_006719963.2:c.859G>C	XP_006720026.1:p.Glu287Gln
XM_011537474.1:c.1108G>C	XP_011535776.1:p.Glu370Gln
XM_011537475.1:c.922G>C	XP_011535777.1:p.Glu308Gln
XM_011537476.1:c.760G>C	XP_011535778.1:p.Glu254Gln
XM_011537477.1:c.1069G>C	XP_011535779.1:p.Glu357Gln
XM_006719963.3:c.904G>C	XP_006720026.2:p.Glu302Gln
XM_011537474.2:c.1153G>C	XP_011535776.2:p.Glu385Gln
XM_011537475.2:c.967G>C	XP_011535777.2:p.Glu323Gln
XM_011537476.2:c.760G>C	XP_011535778.1:p.Glu254Gln
NM_019616.4:c.1000G>C MANE Select	NP_062562.1:p.Glu334Gln
NR_051961.2:n.1084G>C
NM_001267554.2:c.814G>C	NP_001254483.1:p.Glu272Gln