Canonical Allele Identifier: CA121855

Gene: F7

Linked Data

• ClinVar Variation Id: 12080
• ClinVar RCV Id: RCV000012861 ; RCV000250547 ; RCV000391182 ; RCV000396014
• dbSNP Id: rs6046
• ExAC: 13:113773159 G / A
• gnomAD v2: 13-113773159-G-A
• gnomAD v3: 13-113118845-G-A
• gnomAD v4: 13-113118845-G-A
• MyVariant Identifiers: chr13:g.113773159G>A (hg19) ; chr13:g.113118845G>A (hg38)
• PubMed: PMID:10984565 ; PMID:12181036

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.113118845G>A , CM000675.2:g.113118845G>A	GRCh38
NC_000013.10:g.113773159G>A , CM000675.1:g.113773159G>A	GRCh37
NC_000013.9:g.112821160G>A	NCBI36
NG_009258.1:g.1047G>A , LRG_548:g.1047G>A
NG_009262.1:g.18055G>A , LRG_554:g.18055G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000346342.8:c.1172G>A MANE Select	ENSP00000329546.4:p.Arg391Gln
ENST00000346342.7:c.1172G>A	ENSP00000329546.3:p.Arg391Gln
ENST00000375581.3:c.1238G>A	ENSP00000364731.3:p.Arg413Gln
ENST00000541084.5:c.986G>A	ENSP00000442051.2:p.Arg329Gln
NM_000131.4:c.1238G>A , LRG_554t1:c.1238G>A	NP_000122.1:p.Arg413Gln
NM_001267554.1:c.986G>A	NP_001254483.1:p.Arg329Gln
NM_019616.3:c.1172G>A , LRG_554t2:c.1172G>A	NP_062562.1:p.Arg391Gln
NR_051961.1:n.1259G>A
XM_006719963.2:c.1031G>A	XP_006720026.1:p.Arg344Gln
XM_011537474.1:c.1280G>A	XP_011535776.1:p.Arg427Gln
XM_011537475.1:c.1094G>A	XP_011535777.1:p.Arg365Gln
XM_011537476.1:c.932G>A	XP_011535778.1:p.Arg311Gln
XM_011537477.1:c.1241G>A	XP_011535779.1:p.Arg414Gln
XM_006719963.3:c.1076G>A	XP_006720026.2:p.Arg359Gln
XM_011537474.2:c.1325G>A	XP_011535776.2:p.Arg442Gln
XM_011537475.2:c.1139G>A	XP_011535777.2:p.Arg380Gln
XM_011537476.2:c.932G>A	XP_011535778.1:p.Arg311Gln
NM_019616.4:c.1172G>A MANE Select	NP_062562.1:p.Arg391Gln
NR_051961.2:n.1256G>A
NM_001267554.2:c.986G>A	NP_001254483.1:p.Arg329Gln