Canonical Allele Identifier: CA1234400
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs745497430
ExAC: 1:169521930 A / T
gnomAD v2: 1-169521930-A-T
gnomAD v4: 1-169552692-A-T
MyVariant Identifiers: chr1:g.169521930A>T (hg19) chr1:g.169552692A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169552692A>T , CM000663.2:g.169552692A>T GRCh38
NC_000001.10:g.169521930A>T , CM000663.1:g.169521930A>T GRCh37
NC_000001.9:g.167788554A>T NCBI36
NG_011806.1:g.38840T>A , LRG_553:g.38840T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1161T>A MANE Select ENSP00000356771.3:p.Ile387=
ENST00000367796.3:c.1161T>A ENSP00000356770.3:p.Ile387=
ENST00000367797.7:c.1161T>A ENSP00000356771.3:p.Ile387=
NM_000130.4:c.1161T>A , LRG_553t1:c.1161T>A NP_000121.2:p.Ile387=
XM_017000660.2:c.750T>A XP_016856149.1:p.Ile250=
NM_000130.5:c.1161T>A MANE Select NP_000121.2:p.Ile387=
Search 100 bp 5'
Search 100 bp 3'