Canonical Allele Identifier: CA388785776

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113772733A>T (hg19) ; chr13:g.113118419A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118419A>T , CM000675.2:g.113118419A>T	GRCh38
NC_000013.10:g.113772733A>T , CM000675.1:g.113772733A>T	GRCh37
NC_000013.9:g.112820734A>T	NCBI36
NG_009258.1:g.621A>T , LRG_548:g.621A>T
NG_009262.1:g.17629A>T , LRG_554:g.17629A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000346342.8:c.746A>T MANE Select	ENSP00000329546.4:p.His249Leu
ENST00000346342.7:c.746A>T	ENSP00000329546.3:p.His249Leu
ENST00000375581.3:c.812A>T	ENSP00000364731.3:p.His271Leu
ENST00000541084.5:c.560A>T	ENSP00000442051.2:p.His187Leu
NM_000131.4:c.812A>T , LRG_554t1:c.812A>T	NP_000122.1:p.His271Leu
NM_001267554.1:c.560A>T	NP_001254483.1:p.His187Leu
NM_019616.3:c.746A>T , LRG_554t2:c.746A>T	NP_062562.1:p.His249Leu
NR_051961.1:n.833A>T
XM_006719963.2:c.605A>T	XP_006720026.1:p.His202Leu
XM_011537474.1:c.854A>T	XP_011535776.1:p.His285Leu
XM_011537475.1:c.668A>T	XP_011535777.1:p.His223Leu
XM_011537476.1:c.506A>T	XP_011535778.1:p.His169Leu
XM_011537477.1:c.815A>T	XP_011535779.1:p.His272Leu
XM_006719963.3:c.650A>T	XP_006720026.2:p.His217Leu
XM_011537474.2:c.899A>T	XP_011535776.2:p.His300Leu
XM_011537475.2:c.713A>T	XP_011535777.2:p.His238Leu
XM_011537476.2:c.506A>T	XP_011535778.1:p.His169Leu
NM_019616.4:c.746A>T MANE Select	NP_062562.1:p.His249Leu
NR_051961.2:n.830A>T
NM_001267554.2:c.560A>T	NP_001254483.1:p.His187Leu