Canonical Allele Identifier: CA7060121

Gene: F7

Linked Data

• ClinVar Variation Id: 255220
• ClinVar RCV Id: RCV000250246 ; RCV000957295 ; RCV001110403
• dbSNP Id: rs3093266
• ExAC: 13:113772717 T / C
• gnomAD v2: 13-113772717-T-C
• gnomAD v3: 13-113118403-T-C
• gnomAD v4: 13-113118403-T-C
• MyVariant Identifiers: chr13:g.113772717T>C (hg19) ; chr13:g.113118403T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118403T>C , CM000675.2:g.113118403T>C	GRCh38
NC_000013.10:g.113772717T>C , CM000675.1:g.113772717T>C	GRCh37
NC_000013.9:g.112820718T>C	NCBI36
NG_009258.1:g.605T>C , LRG_548:g.605T>C
NG_009262.1:g.17613T>C , LRG_554:g.17613T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346342.8:c.740-10T>C MANE Select	ENSP00000329546.4:n.740-10T>C
ENST00000346342.7:c.740-10T>C	ENSP00000329546.3:n.740-10T>C
ENST00000375581.3:c.806-10T>C	ENSP00000364731.3:n.806-10T>C
ENST00000541084.5:c.554-10T>C	ENSP00000442051.2:n.554-10T>C
NM_000131.4:c.806-10T>C , LRG_554t1:c.806-10T>C	NP_000122.1:n.806-10T>C
NM_001267554.1:c.554-10T>C	NP_001254483.1:n.554-10T>C
NM_019616.3:c.740-10T>C , LRG_554t2:c.740-10T>C	NP_062562.1:n.740-10T>C
NR_051961.1:n.827-10T>C
XM_006719963.2:c.599-10T>C	XP_006720026.1:n.599-10T>C
XM_011537474.1:c.848-10T>C	XP_011535776.1:n.848-10T>C
XM_011537475.1:c.662-10T>C	XP_011535777.1:n.662-10T>C
XM_011537476.1:c.500-10T>C	XP_011535778.1:n.500-10T>C
XM_011537477.1:c.809-10T>C	XP_011535779.1:n.809-10T>C
XM_006719963.3:c.644-10T>C	XP_006720026.2:n.644-10T>C
XM_011537474.2:c.893-10T>C	XP_011535776.2:n.893-10T>C
XM_011537475.2:c.707-10T>C	XP_011535777.2:n.707-10T>C
XM_011537476.2:c.500-10T>C	XP_011535778.1:n.500-10T>C
NM_019616.4:c.740-10T>C MANE Select	NP_062562.1:n.740-10T>C
NR_051961.2:n.824-10T>C
NM_001267554.2:c.554-10T>C	NP_001254483.1:n.554-10T>C