Canonical Allele Identifier: CA485423871

Gene: F7

Linked Data

• dbSNP Id: rs1207188093
• gnomAD v2: 13-113772830-C-T
• gnomAD v3: 13-113118516-C-T
• gnomAD v4: 13-113118516-C-T
• MyVariant Identifiers: chr13:g.113772830C>T (hg19) ; chr13:g.113118516C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118516C>T , CM000675.2:g.113118516C>T	GRCh38
NC_000013.10:g.113772830C>T , CM000675.1:g.113772830C>T	GRCh37
NC_000013.9:g.112820831C>T	NCBI36
NG_009258.1:g.718C>T , LRG_548:g.718C>T
NG_009262.1:g.17726C>T , LRG_554:g.17726C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.843C>T MANE Select	ENSP00000329546.4:p.Ile281=
ENST00000346342.7:c.843C>T	ENSP00000329546.3:p.Ile281=
ENST00000375581.3:c.909C>T	ENSP00000364731.3:p.Ile303=
ENST00000541084.5:c.657C>T	ENSP00000442051.2:p.Ile219=
NM_000131.4:c.909C>T , LRG_554t1:c.909C>T	NP_000122.1:p.Ile303=
NM_001267554.1:c.657C>T	NP_001254483.1:p.Ile219=
NM_019616.3:c.843C>T , LRG_554t2:c.843C>T	NP_062562.1:p.Ile281=
NR_051961.1:n.930C>T
XM_006719963.2:c.702C>T	XP_006720026.1:p.Ile234=
XM_011537474.1:c.951C>T	XP_011535776.1:p.Ile317=
XM_011537475.1:c.765C>T	XP_011535777.1:p.Ile255=
XM_011537476.1:c.603C>T	XP_011535778.1:p.Ile201=
XM_011537477.1:c.912C>T	XP_011535779.1:p.Ile304=
XM_006719963.3:c.747C>T	XP_006720026.2:p.Ile249=
XM_011537474.2:c.996C>T	XP_011535776.2:p.Ile332=
XM_011537475.2:c.810C>T	XP_011535777.2:p.Ile270=
XM_011537476.2:c.603C>T	XP_011535778.1:p.Ile201=
NM_019616.4:c.843C>T MANE Select	NP_062562.1:p.Ile281=
NR_051961.2:n.927C>T
NM_001267554.2:c.657C>T	NP_001254483.1:p.Ile219=