Canonical Allele Identifier: CA1008977131
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1660115195
gnomAD v3: 1-169549714-G-T
gnomAD v4: 1-169549714-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169549714G>T , CM000663.2:g.169549714G>T GRCh38
NC_000001.10:g.169518952G>T , CM000663.1:g.169518952G>T GRCh37
NC_000001.9:g.167785576G>T NCBI36
NG_011806.1:g.41818C>A , LRG_553:g.41818C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367797.9:c.1611+87C>A MANE Select ENSP00000356771.3:n.1611+87C>A
ENST00000367796.3:c.1611+87C>A ENSP00000356770.3:n.1611+87C>A
ENST00000367797.7:c.1611+87C>A ENSP00000356771.3:n.1611+87C>A
NM_000130.4:c.1611+87C>A , LRG_553t1:c.1611+87C>A NP_000121.2:n.1611+87C>A
XM_017000660.2:c.1200+87C>A XP_016856149.1:n.1200+87C>A
NM_000130.5:c.1611+87C>A MANE Select NP_000121.2:n.1611+87C>A
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