Canonical Allele Identifier: CA7060090

Gene: F7

Linked Data

• ClinVar Variation Id: 402841
• ClinVar RCV Id: RCV000455126 ; RCV000995099 ; RCV001110402
• dbSNP Id: rs519650
• ExAC: 13:113771917 A / G
• gnomAD v2: 13-113771917-A-G
• gnomAD v3: 13-113117603-A-G
• gnomAD v4: 13-113117603-A-G
• MyVariant Identifiers: chr13:g.113771917A>G (hg19) ; chr13:g.113771917_113771954delinsGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTG (hg19) ; chr13:g.113771917_113771991delinsGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTGCCACTCTTCCCTGTCCGACCGCGGTGCTGGGTGGGTG (hg19) ; chr13:g.113117603A>G (hg38) ; chr13:g.113117603_113117640delinsGCCACTCTCCCCTGTCCGACCGCGGTGCTGGGTGGGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113117603A>G , CM000675.2:g.113117603A>G	GRCh38
NC_000013.10:g.113771917A>G , CM000675.1:g.113771917A>G	GRCh37
NC_000013.9:g.112819918A>G	NCBI36
NG_009262.1:g.16813A>G , LRG_554:g.16813A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.739+7A>G MANE Select	ENSP00000329546.4:n.739+7A>G
ENST00000346342.7:c.739+7A>G	ENSP00000329546.3:n.739+7A>G
ENST00000375581.3:c.805+7A>G	ENSP00000364731.3:n.805+7A>G
ENST00000541084.5:c.553+7A>G	ENSP00000442051.2:n.553+7A>G
NM_000131.4:c.805+7A>G , LRG_554t1:c.805+7A>G	NP_000122.1:n.805+7A>G
NM_001267554.1:c.553+7A>G	NP_001254483.1:n.553+7A>G
NM_019616.3:c.739+7A>G , LRG_554t2:c.739+7A>G	NP_062562.1:n.739+7A>G
NR_051961.1:n.826+7A>G
XM_006719963.2:c.598+7A>G	XP_006720026.1:n.598+7A>G
XM_011537474.1:c.847+7A>G	XP_011535776.1:n.847+7A>G
XM_011537475.1:c.661+7A>G	XP_011535777.1:n.661+7A>G
XM_011537476.1:c.499+7A>G	XP_011535778.1:n.499+7A>G
XM_011537477.1:c.808+7A>G	XP_011535779.1:n.808+7A>G
XM_006719963.3:c.643+7A>G	XP_006720026.2:n.643+7A>G
XM_011537474.2:c.892+7A>G	XP_011535776.2:n.892+7A>G
XM_011537475.2:c.706+7A>G	XP_011535777.2:n.706+7A>G
XM_011537476.2:c.499+7A>G	XP_011535778.1:n.499+7A>G
NM_019616.4:c.739+7A>G MANE Select	NP_062562.1:n.739+7A>G
NR_051961.2:n.823+7A>G
NM_001267554.2:c.553+7A>G	NP_001254483.1:n.553+7A>G