Canonical Allele Identifier: CA388786223

Gene: F7

Linked Data

• gnomAD v4: 13-113118644-A-G
• MyVariant Identifiers: chr13:g.113772958A>G (hg19) ; chr13:g.113118644A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118644A>G , CM000675.2:g.113118644A>G	GRCh38
NC_000013.10:g.113772958A>G , CM000675.1:g.113772958A>G	GRCh37
NC_000013.9:g.112820959A>G	NCBI36
NG_009258.1:g.846A>G , LRG_548:g.846A>G
NG_009262.1:g.17854A>G , LRG_554:g.17854A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.971A>G MANE Select	ENSP00000329546.4:p.Gln324Arg
ENST00000346342.7:c.971A>G	ENSP00000329546.3:p.Gln324Arg
ENST00000375581.3:c.1037A>G	ENSP00000364731.3:p.Gln346Arg
ENST00000541084.5:c.785A>G	ENSP00000442051.2:p.Gln262Arg
NM_000131.4:c.1037A>G , LRG_554t1:c.1037A>G	NP_000122.1:p.Gln346Arg
NM_001267554.1:c.785A>G	NP_001254483.1:p.Gln262Arg
NM_019616.3:c.971A>G , LRG_554t2:c.971A>G	NP_062562.1:p.Gln324Arg
NR_051961.1:n.1058A>G
XM_006719963.2:c.830A>G	XP_006720026.1:p.Gln277Arg
XM_011537474.1:c.1079A>G	XP_011535776.1:p.Gln360Arg
XM_011537475.1:c.893A>G	XP_011535777.1:p.Gln298Arg
XM_011537476.1:c.731A>G	XP_011535778.1:p.Gln244Arg
XM_011537477.1:c.1040A>G	XP_011535779.1:p.Gln347Arg
XM_006719963.3:c.875A>G	XP_006720026.2:p.Gln292Arg
XM_011537474.2:c.1124A>G	XP_011535776.2:p.Gln375Arg
XM_011537475.2:c.938A>G	XP_011535777.2:p.Gln313Arg
XM_011537476.2:c.731A>G	XP_011535778.1:p.Gln244Arg
NM_019616.4:c.971A>G MANE Select	NP_062562.1:p.Gln324Arg
NR_051961.2:n.1055A>G
NM_001267554.2:c.785A>G	NP_001254483.1:p.Gln262Arg