Canonical Allele Identifier: CA526710743
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1185865234
gnomAD v2: 1-169501703-G-C
gnomAD v3: 1-169532465-G-C
gnomAD v4: 1-169532465-G-C
MyVariant Identifiers: chr1:g.169501703G>C (hg19) chr1:g.169532465G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169532465G>C , CM000663.2:g.169532465G>C GRCh38
NC_000001.10:g.169501703G>C , CM000663.1:g.169501703G>C GRCh37
NC_000001.9:g.167768327G>C NCBI36
NG_011806.1:g.59067C>G , LRG_553:g.59067C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.4972-1443C>G MANE Select ENSP00000356771.3:n.4972-1443C>G
ENST00000367796.3:c.4987-1443C>G ENSP00000356770.3:n.4987-1443C>G
ENST00000367797.7:c.4972-1443C>G ENSP00000356771.3:n.4972-1443C>G
NM_000130.4:c.4972-1443C>G , LRG_553t1:c.4972-1443C>G NP_000121.2:n.4972-1443C>G
XM_017000660.2:c.4561-1443C>G XP_016856149.1:n.4561-1443C>G
NM_000130.5:c.4972-1443C>G MANE Select NP_000121.2:n.4972-1443C>G
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