Canonical Allele Identifier: CA7059813

Gene: F7

Linked Data

• ClinVar Variation Id: 444322
• ClinVar RCV Id: RCV000513469
• dbSNP Id: rs769455161
• ExAC: 13:113760224 G / A
• gnomAD v2: 13-113760224-G-A
• gnomAD v3: 13-113105910-G-A
• gnomAD v4: 13-113105910-G-A
• MyVariant Identifiers: chr13:g.113760224G>A (hg19) ; chr13:g.113105910G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113105910G>A , CM000675.2:g.113105910G>A	GRCh38
NC_000013.10:g.113760224G>A , CM000675.1:g.113760224G>A	GRCh37
NC_000013.9:g.112808225G>A	NCBI36
NG_009262.1:g.5120G>A , LRG_554:g.5120G>A

Transcript Alleles

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