Canonical Allele Identifier: CA32435336
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs943514857
gnomAD v2: 1-169499960-C-T
gnomAD v3: 1-169530722-C-T
gnomAD v4: 1-169530722-C-T
MyVariant Identifiers: chr1:g.169499960C>T (hg19) chr1:g.169530722C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169530722C>T , CM000663.2:g.169530722C>T GRCh38
NC_000001.10:g.169499960C>T , CM000663.1:g.169499960C>T GRCh37
NC_000001.9:g.167766584C>T NCBI36
NG_011806.1:g.60810G>A , LRG_553:g.60810G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367797.9:c.5208+64G>A MANE Select ENSP00000356771.3:n.5208+64G>A
ENST00000367796.3:c.5223+64G>A ENSP00000356770.3:n.5223+64G>A
ENST00000367797.7:c.5208+64G>A ENSP00000356771.3:n.5208+64G>A
NM_000130.4:c.5208+64G>A , LRG_553t1:c.5208+64G>A NP_000121.2:n.5208+64G>A
XM_017000660.2:c.4797+64G>A XP_016856149.1:n.4797+64G>A
NM_000130.5:c.5208+64G>A MANE Select NP_000121.2:n.5208+64G>A
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