Canonical Allele Identifier: CA7059812

Gene: F7

Linked Data

• ClinVar Variation Id: 517720
• ClinVar RCV Id: RCV000609151 ; RCV001113048 ; RCV002245052 ; RCV002491303
• dbSNP Id: rs187128791
• ExAC: 13:113760223 C / T
• gnomAD v2: 13-113760223-C-T
• gnomAD v3: 13-113105909-C-T
• gnomAD v4: 13-113105909-C-T
• MyVariant Identifiers: chr13:g.113760223C>T (hg19) ; chr13:g.113760223_113760229delinsTGTCCGG (hg19) ; chr13:g.113105909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113105909C>T , CM000675.2:g.113105909C>T	GRCh38
NC_000013.10:g.113760223C>T , CM000675.1:g.113760223C>T	GRCh37
NC_000013.9:g.112808224C>T	NCBI36
NG_009262.1:g.5119C>T , LRG_554:g.5119C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.64+4C>T MANE Select	ENSP00000329546.4:n.64+4C>T
ENST00000346342.7:c.64+4C>T	ENSP00000329546.3:n.64+4C>T
ENST00000375581.3:c.64+4C>T	ENSP00000364731.3:n.64+4C>T
ENST00000444337.1:c.64+4C>T	ENSP00000387669.1:n.64+4C>T
ENST00000541084.5:c.64+4C>T	ENSP00000442051.2:n.64+4C>T
NM_000131.4:c.64+4C>T , LRG_554t1:c.64+4C>T	NP_000122.1:n.64+4C>T
NM_001267554.1:c.64+4C>T	NP_001254483.1:n.64+4C>T
NM_019616.3:c.64+4C>T , LRG_554t2:c.64+4C>T	NP_062562.1:n.64+4C>T
NR_051961.1:n.118+4C>T
XM_006719963.2:c.64+4C>T	XP_006720026.1:n.64+4C>T
XM_011537474.1:c.64+4C>T	XP_011535776.1:n.64+4C>T
XM_011537475.1:c.64+4C>T	XP_011535777.1:n.64+4C>T
XM_011537477.1:c.64+4C>T	XP_011535779.1:n.64+4C>T
XM_006719963.3:c.109+4C>T	XP_006720026.2:n.109+4C>T
XM_011537474.2:c.109+4C>T	XP_011535776.2:n.109+4C>T
XM_011537475.2:c.109+4C>T	XP_011535777.2:n.109+4C>T
NM_019616.4:c.64+4C>T MANE Select	NP_062562.1:n.64+4C>T
NR_051961.2:n.115+4C>T
NM_001267554.2:c.64+4C>T	NP_001254483.1:n.64+4C>T