Canonical Allele Identifier: CA256461887
Gene: F7 HGNC NCBI

Linked Data

ClinVar Variation Id: 12089
ClinVar RCV Id: RCV000012870
dbSNP Id: rs121964937
MyVariant Identifiers: chr13:g.113773161G>T (hg19) chr13:g.113118847G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113118847G>T , CM000675.2:g.113118847G>T GRCh38
NC_000013.10:g.113773161G>T , CM000675.1:g.113773161G>T GRCh37
NC_000013.9:g.112821162G>T NCBI36
NG_009258.1:g.1049G>T , LRG_548:g.1049G>T
NG_009262.1:g.18057G>T , LRG_554:g.18057G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000346342.8:c.1174G>T MANE Select ENSP00000329546.4:p.Gly392Cys
ENST00000346342.7:c.1174G>T ENSP00000329546.3:p.Gly392Cys
ENST00000375581.3:c.1240G>T ENSP00000364731.3:p.Gly414Cys
ENST00000541084.5:c.988G>T ENSP00000442051.2:p.Gly330Cys
NM_000131.4:c.1240G>T , LRG_554t1:c.1240G>T NP_000122.1:p.Gly414Cys
NM_001267554.1:c.988G>T NP_001254483.1:p.Gly330Cys
NM_019616.3:c.1174G>T , LRG_554t2:c.1174G>T NP_062562.1:p.Gly392Cys
NR_051961.1:n.1261G>T
XM_006719963.2:c.1033G>T XP_006720026.1:p.Gly345Cys
XM_011537474.1:c.1282G>T XP_011535776.1:p.Gly428Cys
XM_011537475.1:c.1096G>T XP_011535777.1:p.Gly366Cys
XM_011537476.1:c.934G>T XP_011535778.1:p.Gly312Cys
XM_011537477.1:c.1243G>T XP_011535779.1:p.Gly415Cys
XM_006719963.3:c.1078G>T XP_006720026.2:p.Gly360Cys
XM_011537474.2:c.1327G>T XP_011535776.2:p.Gly443Cys
XM_011537475.2:c.1141G>T XP_011535777.2:p.Gly381Cys
XM_011537476.2:c.934G>T XP_011535778.1:p.Gly312Cys
NM_019616.4:c.1174G>T MANE Select NP_062562.1:p.Gly392Cys
NR_051961.2:n.1258G>T
NM_001267554.2:c.988G>T NP_001254483.1:p.Gly330Cys
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