Canonical Allele Identifier: CA388787150

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113773270T>A (hg19) ; chr13:g.113118956T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118956T>A , CM000675.2:g.113118956T>A	GRCh38
NC_000013.10:g.113773270T>A , CM000675.1:g.113773270T>A	GRCh37
NC_000013.9:g.112821271T>A	NCBI36
NG_009258.1:g.1158T>A , LRG_548:g.1158T>A
NG_009262.1:g.18166T>A , LRG_554:g.18166T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1283T>A MANE Select	ENSP00000329546.4:p.Leu428His
ENST00000346342.7:c.1283T>A	ENSP00000329546.3:p.Leu428His
ENST00000375581.3:c.1349T>A	ENSP00000364731.3:p.Leu450His
ENST00000541084.5:c.1097T>A	ENSP00000442051.2:p.Leu366His
NM_000131.4:c.1349T>A , LRG_554t1:c.1349T>A	NP_000122.1:p.Leu450His
NM_001267554.1:c.1097T>A	NP_001254483.1:p.Leu366His
NM_019616.3:c.1283T>A , LRG_554t2:c.1283T>A	NP_062562.1:p.Leu428His
NR_051961.1:n.1370T>A
XM_006719963.2:c.1142T>A	XP_006720026.1:p.Leu381His
XM_011537474.1:c.1391T>A	XP_011535776.1:p.Leu464His
XM_011537475.1:c.1205T>A	XP_011535777.1:p.Leu402His
XM_011537476.1:c.1043T>A	XP_011535778.1:p.Leu348His
XM_011537477.1:c.1352T>A	XP_011535779.1:p.Leu451His
XM_006719963.3:c.1187T>A	XP_006720026.2:p.Leu396His
XM_011537474.2:c.1436T>A	XP_011535776.2:p.Leu479His
XM_011537475.2:c.1250T>A	XP_011535777.2:p.Leu417His
XM_011537476.2:c.1043T>A	XP_011535778.1:p.Leu348His
NM_019616.4:c.1283T>A MANE Select	NP_062562.1:p.Leu428His
NR_051961.2:n.1367T>A
NM_001267554.2:c.1097T>A	NP_001254483.1:p.Leu366His