Canonical Allele Identifier: CA388786749

Gene: F7

Linked Data

• dbSNP Id: rs2142234219
• MyVariant Identifiers: chr13:g.113773132G>T (hg19) ; chr13:g.113118818G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118818G>T , CM000675.2:g.113118818G>T	GRCh38
NC_000013.10:g.113773132G>T , CM000675.1:g.113773132G>T	GRCh37
NC_000013.9:g.112821133G>T	NCBI36
NG_009258.1:g.1020G>T , LRG_548:g.1020G>T
NG_009262.1:g.18028G>T , LRG_554:g.18028G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.1145G>T MANE Select	ENSP00000329546.4:p.Ser382Ile
ENST00000346342.7:c.1145G>T	ENSP00000329546.3:p.Ser382Ile
ENST00000375581.3:c.1211G>T	ENSP00000364731.3:p.Ser404Ile
ENST00000541084.5:c.959G>T	ENSP00000442051.2:p.Ser320Ile
NM_000131.4:c.1211G>T , LRG_554t1:c.1211G>T	NP_000122.1:p.Ser404Ile
NM_001267554.1:c.959G>T	NP_001254483.1:p.Ser320Ile
NM_019616.3:c.1145G>T , LRG_554t2:c.1145G>T	NP_062562.1:p.Ser382Ile
NR_051961.1:n.1232G>T
XM_006719963.2:c.1004G>T	XP_006720026.1:p.Ser335Ile
XM_011537474.1:c.1253G>T	XP_011535776.1:p.Ser418Ile
XM_011537475.1:c.1067G>T	XP_011535777.1:p.Ser356Ile
XM_011537476.1:c.905G>T	XP_011535778.1:p.Ser302Ile
XM_011537477.1:c.1214G>T	XP_011535779.1:p.Ser405Ile
XM_006719963.3:c.1049G>T	XP_006720026.2:p.Ser350Ile
XM_011537474.2:c.1298G>T	XP_011535776.2:p.Ser433Ile
XM_011537475.2:c.1112G>T	XP_011535777.2:p.Ser371Ile
XM_011537476.2:c.905G>T	XP_011535778.1:p.Ser302Ile
NM_019616.4:c.1145G>T MANE Select	NP_062562.1:p.Ser382Ile
NR_051961.2:n.1229G>T
NM_001267554.2:c.959G>T	NP_001254483.1:p.Ser320Ile