Canonical Allele Identifier: CA1008975423
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1659611918
gnomAD v3: 1-169532468-C-G
gnomAD v4: 1-169532468-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169532468C>G , CM000663.2:g.169532468C>G GRCh38
NC_000001.10:g.169501706C>G , CM000663.1:g.169501706C>G GRCh37
NC_000001.9:g.167768330C>G NCBI36
NG_011806.1:g.59064G>C , LRG_553:g.59064G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.4972-1446G>C MANE Select ENSP00000356771.3:n.4972-1446G>C
ENST00000367796.3:c.4987-1446G>C ENSP00000356770.3:n.4987-1446G>C
ENST00000367797.7:c.4972-1446G>C ENSP00000356771.3:n.4972-1446G>C
NM_000130.4:c.4972-1446G>C , LRG_553t1:c.4972-1446G>C NP_000121.2:n.4972-1446G>C
XM_017000660.2:c.4561-1446G>C XP_016856149.1:n.4561-1446G>C
NM_000130.5:c.4972-1446G>C MANE Select NP_000121.2:n.4972-1446G>C
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