Canonical Allele Identifier: CA421930491
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1192413830
gnomAD v2: 1-169510938-G-A
gnomAD v4: 1-169541700-G-A
MyVariant Identifiers: chr1:g.169510938G>A (hg19) chr1:g.169541700G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541700G>A , CM000663.2:g.169541700G>A GRCh38
NC_000001.10:g.169510938G>A , CM000663.1:g.169510938G>A GRCh37
NC_000001.9:g.167777562G>A NCBI36
NG_011806.1:g.49832C>T , LRG_553:g.49832C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.3390C>T MANE Select ENSP00000356771.3:p.Phe1130=
ENST00000367796.3:c.3405C>T ENSP00000356770.3:p.Phe1135=
ENST00000367797.7:c.3390C>T ENSP00000356771.3:p.Phe1130=
NM_000130.4:c.3390C>T , LRG_553t1:c.3390C>T NP_000121.2:p.Phe1130=
XM_017000660.2:c.2979C>T XP_016856149.1:p.Phe993=
NM_000130.5:c.3390C>T MANE Select NP_000121.2:p.Phe1130=
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