Canonical Allele Identifier: CA388787216

Gene: F7

Linked Data

• ClinVar Variation Id: 1098450
• ClinVar RCV Id: RCV001420382
• dbSNP Id: rs372452455
• MyVariant Identifiers: chr13:g.113773306G>T (hg19) ; chr13:g.113118992G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118992G>T , CM000675.2:g.113118992G>T	GRCh38
NC_000013.10:g.113773306G>T , CM000675.1:g.113773306G>T	GRCh37
NC_000013.9:g.112821307G>T	NCBI36
NG_009258.1:g.1194G>T , LRG_548:g.1194G>T
NG_009262.1:g.18202G>T , LRG_554:g.18202G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1319G>T MANE Select	ENSP00000329546.4:p.Arg440Leu
ENST00000346342.7:c.1319G>T	ENSP00000329546.3:p.Arg440Leu
ENST00000375581.3:c.1385G>T	ENSP00000364731.3:p.Arg462Leu
ENST00000541084.5:c.1133G>T	ENSP00000442051.2:p.Arg378Leu
NM_000131.4:c.1385G>T , LRG_554t1:c.1385G>T	NP_000122.1:p.Arg462Leu
NM_001267554.1:c.1133G>T	NP_001254483.1:p.Arg378Leu
NM_019616.3:c.1319G>T , LRG_554t2:c.1319G>T	NP_062562.1:p.Arg440Leu
NR_051961.1:n.1406G>T
XM_006719963.2:c.1178G>T	XP_006720026.1:p.Arg393Leu
XM_011537474.1:c.1427G>T	XP_011535776.1:p.Arg476Leu
XM_011537475.1:c.1241G>T	XP_011535777.1:p.Arg414Leu
XM_011537476.1:c.1079G>T	XP_011535778.1:p.Arg360Leu
XM_011537477.1:c.1388G>T	XP_011535779.1:p.Arg463Leu
XM_006719963.3:c.1223G>T	XP_006720026.2:p.Arg408Leu
XM_011537474.2:c.1472G>T	XP_011535776.2:p.Arg491Leu
XM_011537475.2:c.1286G>T	XP_011535777.2:p.Arg429Leu
XM_011537476.2:c.1079G>T	XP_011535778.1:p.Arg360Leu
NM_019616.4:c.1319G>T MANE Select	NP_062562.1:p.Arg440Leu
NR_051961.2:n.1403G>T
NM_001267554.2:c.1133G>T	NP_001254483.1:p.Arg378Leu