Canonical Allele Identifier: CA526711247
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1354176542
gnomAD v2: 1-169518867-C-A
gnomAD v3: 1-169549629-C-A
gnomAD v4: 1-169549629-C-A
MyVariant Identifiers: chr1:g.169518867C>A (hg19) chr1:g.169549629C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169549629C>A , CM000663.2:g.169549629C>A GRCh38
NC_000001.10:g.169518867C>A , CM000663.1:g.169518867C>A GRCh37
NC_000001.9:g.167785491C>A NCBI36
NG_011806.1:g.41903G>T , LRG_553:g.41903G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1611+172G>T MANE Select ENSP00000356771.3:n.1611+172G>T
ENST00000367796.3:c.1611+172G>T ENSP00000356770.3:n.1611+172G>T
ENST00000367797.7:c.1611+172G>T ENSP00000356771.3:n.1611+172G>T
NM_000130.4:c.1611+172G>T , LRG_553t1:c.1611+172G>T NP_000121.2:n.1611+172G>T
XM_017000660.2:c.1200+172G>T XP_016856149.1:n.1200+172G>T
NM_000130.5:c.1611+172G>T MANE Select NP_000121.2:n.1611+172G>T
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