Canonical Allele Identifier: CA256461440

Gene: F7

Linked Data

• dbSNP Id: rs1025665594
• gnomAD v4: 13-113118433-C-T
• MyVariant Identifiers: chr13:g.113772747C>T (hg19) ; chr13:g.113118433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118433C>T , CM000675.2:g.113118433C>T	GRCh38
NC_000013.10:g.113772747C>T , CM000675.1:g.113772747C>T	GRCh37
NC_000013.9:g.112820748C>T	NCBI36
NG_009258.1:g.635C>T , LRG_548:g.635C>T
NG_009262.1:g.17643C>T , LRG_554:g.17643C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.760C>T MANE Select	ENSP00000329546.4:p.His254Tyr
ENST00000346342.7:c.760C>T	ENSP00000329546.3:p.His254Tyr
ENST00000375581.3:c.826C>T	ENSP00000364731.3:p.His276Tyr
ENST00000541084.5:c.574C>T	ENSP00000442051.2:p.His192Tyr
NM_000131.4:c.826C>T , LRG_554t1:c.826C>T	NP_000122.1:p.His276Tyr
NM_001267554.1:c.574C>T	NP_001254483.1:p.His192Tyr
NM_019616.3:c.760C>T , LRG_554t2:c.760C>T	NP_062562.1:p.His254Tyr
NR_051961.1:n.847C>T
XM_006719963.2:c.619C>T	XP_006720026.1:p.His207Tyr
XM_011537474.1:c.868C>T	XP_011535776.1:p.His290Tyr
XM_011537475.1:c.682C>T	XP_011535777.1:p.His228Tyr
XM_011537476.1:c.520C>T	XP_011535778.1:p.His174Tyr
XM_011537477.1:c.829C>T	XP_011535779.1:p.His277Tyr
XM_006719963.3:c.664C>T	XP_006720026.2:p.His222Tyr
XM_011537474.2:c.913C>T	XP_011535776.2:p.His305Tyr
XM_011537475.2:c.727C>T	XP_011535777.2:p.His243Tyr
XM_011537476.2:c.520C>T	XP_011535778.1:p.His174Tyr
NM_019616.4:c.760C>T MANE Select	NP_062562.1:p.His254Tyr
NR_051961.2:n.844C>T
NM_001267554.2:c.574C>T	NP_001254483.1:p.His192Tyr