Canonical Allele Identifier: CA526711245
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1245595594
gnomAD v2: 1-169518865-G-A
gnomAD v3: 1-169549627-G-A
gnomAD v4: 1-169549627-G-A
MyVariant Identifiers: chr1:g.169518865G>A (hg19) chr1:g.169549627G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169549627G>A , CM000663.2:g.169549627G>A GRCh38
NC_000001.10:g.169518865G>A , CM000663.1:g.169518865G>A GRCh37
NC_000001.9:g.167785489G>A NCBI36
NG_011806.1:g.41905C>T , LRG_553:g.41905C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1611+174C>T MANE Select ENSP00000356771.3:n.1611+174C>T
ENST00000367796.3:c.1611+174C>T ENSP00000356770.3:n.1611+174C>T
ENST00000367797.7:c.1611+174C>T ENSP00000356771.3:n.1611+174C>T
NM_000130.4:c.1611+174C>T , LRG_553t1:c.1611+174C>T NP_000121.2:n.1611+174C>T
XM_017000660.2:c.1200+174C>T XP_016856149.1:n.1200+174C>T
NM_000130.5:c.1611+174C>T MANE Select NP_000121.2:n.1611+174C>T
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