Canonical Allele Identifier: CA1234638
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs778465951
ExAC: 1:169541420 A / T
gnomAD v2: 1-169541420-A-T
gnomAD v3: 1-169572182-A-T
gnomAD v4: 1-169572182-A-T
MyVariant Identifiers: chr1:g.169541420A>T (hg19) chr1:g.169572182A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169572182A>T , CM000663.2:g.169572182A>T GRCh38
NC_000001.10:g.169541420A>T , CM000663.1:g.169541420A>T GRCh37
NC_000001.9:g.167808044A>T NCBI36
NG_011806.1:g.19350T>A , LRG_553:g.19350T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.373+39T>A MANE Select ENSP00000356771.3:n.373+39T>A
ENST00000367796.3:c.373+39T>A ENSP00000356770.3:n.373+39T>A
ENST00000367797.7:c.373+39T>A ENSP00000356771.3:n.373+39T>A
NM_000130.4:c.373+39T>A , LRG_553t1:c.373+39T>A NP_000121.2:n.373+39T>A
XM_017000660.2:c.-39+39T>A XP_016856149.1:n.-39+39T>A
NM_000130.5:c.373+39T>A MANE Select NP_000121.2:n.373+39T>A
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