Canonical Allele Identifier: CA388785810

Gene: F7

Linked Data

• MyVariant Identifiers: chr13:g.113772748A>T (hg19) ; chr13:g.113118434A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118434A>T , CM000675.2:g.113118434A>T	GRCh38
NC_000013.10:g.113772748A>T , CM000675.1:g.113772748A>T	GRCh37
NC_000013.9:g.112820749A>T	NCBI36
NG_009258.1:g.636A>T , LRG_548:g.636A>T
NG_009262.1:g.17644A>T , LRG_554:g.17644A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.761A>T MANE Select	ENSP00000329546.4:p.His254Leu
ENST00000346342.7:c.761A>T	ENSP00000329546.3:p.His254Leu
ENST00000375581.3:c.827A>T	ENSP00000364731.3:p.His276Leu
ENST00000541084.5:c.575A>T	ENSP00000442051.2:p.His192Leu
NM_000131.4:c.827A>T , LRG_554t1:c.827A>T	NP_000122.1:p.His276Leu
NM_001267554.1:c.575A>T	NP_001254483.1:p.His192Leu
NM_019616.3:c.761A>T , LRG_554t2:c.761A>T	NP_062562.1:p.His254Leu
NR_051961.1:n.848A>T
XM_006719963.2:c.620A>T	XP_006720026.1:p.His207Leu
XM_011537474.1:c.869A>T	XP_011535776.1:p.His290Leu
XM_011537475.1:c.683A>T	XP_011535777.1:p.His228Leu
XM_011537476.1:c.521A>T	XP_011535778.1:p.His174Leu
XM_011537477.1:c.830A>T	XP_011535779.1:p.His277Leu
XM_006719963.3:c.665A>T	XP_006720026.2:p.His222Leu
XM_011537474.2:c.914A>T	XP_011535776.2:p.His305Leu
XM_011537475.2:c.728A>T	XP_011535777.2:p.His243Leu
XM_011537476.2:c.521A>T	XP_011535778.1:p.His174Leu
NM_019616.4:c.761A>T MANE Select	NP_062562.1:p.His254Leu
NR_051961.2:n.845A>T
NM_001267554.2:c.575A>T	NP_001254483.1:p.His192Leu