Canonical Allele Identifier: CA7059902

Gene: F7

Linked Data

• dbSNP Id: rs761077461
• ExAC: 13:113768099 A / G
• gnomAD v2: 13-113768099-A-G
• gnomAD v3: 13-113113785-A-G
• gnomAD v4: 13-113113785-A-G
• COSMIC: COSM5478450
• MyVariant Identifiers: chr13:g.113768099A>G (hg19) ; chr13:g.113113785A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113113785A>G , CM000675.2:g.113113785A>G	GRCh38
NC_000013.10:g.113768099A>G , CM000675.1:g.113768099A>G	GRCh37
NC_000013.9:g.112816100A>G	NCBI36
NG_009262.1:g.12995A>G , LRG_554:g.12995A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000346342.8:c.250+9A>G MANE Select	ENSP00000329546.4:n.250+9A>G
ENST00000346342.7:c.250+9A>G	ENSP00000329546.3:n.250+9A>G
ENST00000375581.3:c.316+9A>G	ENSP00000364731.3:n.316+9A>G
ENST00000444337.1:c.222A>G	ENSP00000387669.1:p.Gly74=
ENST00000473085.1:n.197+9A>G
ENST00000479674.1:n.522A>G
ENST00000541084.5:c.65-62A>G	ENSP00000442051.2:n.65-62A>G
NM_000131.4:c.316+9A>G , LRG_554t1:c.316+9A>G	NP_000122.1:n.316+9A>G
NM_001267554.1:c.65-62A>G	NP_001254483.1:n.65-62A>G
NM_019616.3:c.250+9A>G , LRG_554t2:c.250+9A>G	NP_062562.1:n.250+9A>G
NR_051961.1:n.276A>G
XM_006719963.2:c.250+9A>G	XP_006720026.1:n.250+9A>G
XM_011537474.1:c.250+9A>G	XP_011535776.1:n.250+9A>G
XM_011537475.1:c.65-62A>G	XP_011535777.1:n.65-62A>G
XM_011537477.1:c.212-62A>G	XP_011535779.1:n.212-62A>G
XM_006719963.3:c.295+9A>G	XP_006720026.2:n.295+9A>G
XM_011537474.2:c.295+9A>G	XP_011535776.2:n.295+9A>G
XM_011537475.2:c.110-62A>G	XP_011535777.2:n.110-62A>G
NM_019616.4:c.250+9A>G MANE Select	NP_062562.1:n.250+9A>G
NR_051961.2:n.273A>G
NM_001267554.2:c.65-62A>G	NP_001254483.1:n.65-62A>G