Canonical Allele Identifier: CA1233434
Gene: F5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2881494
ClinVar RCV Id: RCV003763543
dbSNP Id: rs757905180
ExAC: 1:169495119 T / C
gnomAD v2: 1-169495119-T-C
gnomAD v4: 1-169525881-T-C
MyVariant Identifiers: chr1:g.169495119T>C (hg19) chr1:g.169525881T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169525881T>C , CM000663.2:g.169525881T>C GRCh38
NC_000001.10:g.169495119T>C , CM000663.1:g.169495119T>C GRCh37
NC_000001.9:g.167761743T>C NCBI36
NG_011806.1:g.65651A>G , LRG_553:g.65651A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.5716+20A>G MANE Select ENSP00000356771.3:n.5716+20A>G
ENST00000367796.3:c.5731+20A>G ENSP00000356770.3:n.5731+20A>G
ENST00000367797.7:c.5716+20A>G ENSP00000356771.3:n.5716+20A>G
NM_000130.4:c.5716+20A>G , LRG_553t1:c.5716+20A>G NP_000121.2:n.5716+20A>G
XM_017000660.2:c.5305+20A>G XP_016856149.1:n.5305+20A>G
NM_000130.5:c.5716+20A>G MANE Select NP_000121.2:n.5716+20A>G
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