Canonical Allele Identifier: CA343119041
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1360162284
gnomAD v2: 1-169511132-G-A
gnomAD v4: 1-169541894-G-A
MyVariant Identifiers: chr1:g.169511132G>A (hg19) chr1:g.169541894G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541894G>A , CM000663.2:g.169541894G>A GRCh38
NC_000001.10:g.169511132G>A , CM000663.1:g.169511132G>A GRCh37
NC_000001.9:g.167777756G>A NCBI36
NG_011806.1:g.49638C>T , LRG_553:g.49638C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.3196C>T MANE Select ENSP00000356771.3:p.His1066Tyr
ENST00000367796.3:c.3211C>T ENSP00000356770.3:p.His1071Tyr
ENST00000367797.7:c.3196C>T ENSP00000356771.3:p.His1066Tyr
NM_000130.4:c.3196C>T , LRG_553t1:c.3196C>T NP_000121.2:p.His1066Tyr
XM_017000660.2:c.2785C>T XP_016856149.1:p.His929Tyr
NM_000130.5:c.3196C>T MANE Select NP_000121.2:p.His1066Tyr
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