Canonical Allele Identifier: CA1008979342
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1660273441
gnomAD v3: 1-169554881-A-C
gnomAD v4: 1-169554881-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169554881A>C , CM000663.2:g.169554881A>C GRCh38
NC_000001.10:g.169524119A>C , CM000663.1:g.169524119A>C GRCh37
NC_000001.9:g.167790743A>C NCBI36
NG_011806.1:g.36651T>G , LRG_553:g.36651T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1118+301T>G MANE Select ENSP00000356771.3:n.1118+301T>G
ENST00000367796.3:c.1118+301T>G ENSP00000356770.3:n.1118+301T>G
ENST00000367797.7:c.1118+301T>G ENSP00000356771.3:n.1118+301T>G
NM_000130.4:c.1118+301T>G , LRG_553t1:c.1118+301T>G NP_000121.2:n.1118+301T>G
XM_017000660.2:c.707+301T>G XP_016856149.1:n.707+301T>G
NM_000130.5:c.1118+301T>G MANE Select NP_000121.2:n.1118+301T>G
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