Canonical Allele Identifier: CA343124959
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1659436446
gnomAD v3: 1-169525961-T-G
gnomAD v4: 1-169525961-T-G
MyVariant Identifiers: chr1:g.169495199T>G (hg19) chr1:g.169525961T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169525961T>G , CM000663.2:g.169525961T>G GRCh38
NC_000001.10:g.169495199T>G , CM000663.1:g.169495199T>G GRCh37
NC_000001.9:g.167761823T>G NCBI36
NG_011806.1:g.65571A>C , LRG_553:g.65571A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367797.9:c.5656A>C MANE Select ENSP00000356771.3:p.Thr1886Pro
ENST00000367796.3:c.5671A>C ENSP00000356770.3:p.Thr1891Pro
ENST00000367797.7:c.5656A>C ENSP00000356771.3:p.Thr1886Pro
NM_000130.4:c.5656A>C , LRG_553t1:c.5656A>C NP_000121.2:p.Thr1886Pro
XM_017000660.2:c.5245A>C XP_016856149.1:p.Thr1749Pro
NM_000130.5:c.5656A>C MANE Select NP_000121.2:p.Thr1886Pro
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