Canonical Allele Identifier: CA388786224

Gene: F7

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.971A>T MANE Select	ENSP00000329546.4:p.Gln324Leu
ENST00000346342.7:c.971A>T	ENSP00000329546.3:p.Gln324Leu
ENST00000375581.3:c.1037A>T	ENSP00000364731.3:p.Gln346Leu
ENST00000541084.5:c.785A>T	ENSP00000442051.2:p.Gln262Leu
NM_000131.4:c.1037A>T , LRG_554t1:c.1037A>T	NP_000122.1:p.Gln346Leu
NM_001267554.1:c.785A>T	NP_001254483.1:p.Gln262Leu
NM_019616.3:c.971A>T , LRG_554t2:c.971A>T	NP_062562.1:p.Gln324Leu
NR_051961.1:n.1058A>T
XM_006719963.2:c.830A>T	XP_006720026.1:p.Gln277Leu
XM_011537474.1:c.1079A>T	XP_011535776.1:p.Gln360Leu
XM_011537475.1:c.893A>T	XP_011535777.1:p.Gln298Leu
XM_011537476.1:c.731A>T	XP_011535778.1:p.Gln244Leu
XM_011537477.1:c.1040A>T	XP_011535779.1:p.Gln347Leu
XM_006719963.3:c.875A>T	XP_006720026.2:p.Gln292Leu
XM_011537474.2:c.1124A>T	XP_011535776.2:p.Gln375Leu
XM_011537475.2:c.938A>T	XP_011535777.2:p.Gln313Leu
XM_011537476.2:c.731A>T	XP_011535778.1:p.Gln244Leu
NM_019616.4:c.971A>T MANE Select	NP_062562.1:p.Gln324Leu
NR_051961.2:n.1055A>T
NM_001267554.2:c.785A>T	NP_001254483.1:p.Gln262Leu