Canonical Allele Identifier: CA1234643
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs772199750
ExAC: 1:169541449 T / C
gnomAD v2: 1-169541449-T-C
gnomAD v3: 1-169572211-T-C
gnomAD v4: 1-169572211-T-C
MyVariant Identifiers: chr1:g.169541449T>C (hg19) chr1:g.169572211T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169572211T>C , CM000663.2:g.169572211T>C GRCh38
NC_000001.10:g.169541449T>C , CM000663.1:g.169541449T>C GRCh37
NC_000001.9:g.167808073T>C NCBI36
NG_011806.1:g.19321A>G , LRG_553:g.19321A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.373+10A>G MANE Select ENSP00000356771.3:n.373+10A>G
ENST00000367796.3:c.373+10A>G ENSP00000356770.3:n.373+10A>G
ENST00000367797.7:c.373+10A>G ENSP00000356771.3:n.373+10A>G
NM_000130.4:c.373+10A>G , LRG_553t1:c.373+10A>G NP_000121.2:n.373+10A>G
XM_017000660.2:c.-39+10A>G XP_016856149.1:n.-39+10A>G
NM_000130.5:c.373+10A>G MANE Select NP_000121.2:n.373+10A>G
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