Canonical Allele Identifier: CA890926316
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1457548866
gnomAD v3: 1-169549579-T-G
gnomAD v4: 1-169549579-T-G
MyVariant Identifiers: chr1:g.169518817T>G (hg19) chr1:g.169549579T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169549579T>G , CM000663.2:g.169549579T>G GRCh38
NC_000001.10:g.169518817T>G , CM000663.1:g.169518817T>G GRCh37
NC_000001.9:g.167785441T>G NCBI36
NG_011806.1:g.41953A>C , LRG_553:g.41953A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1611+222A>C MANE Select ENSP00000356771.3:n.1611+222A>C
ENST00000367796.3:c.1611+222A>C ENSP00000356770.3:n.1611+222A>C
ENST00000367797.7:c.1611+222A>C ENSP00000356771.3:n.1611+222A>C
NM_000130.4:c.1611+222A>C , LRG_553t1:c.1611+222A>C NP_000121.2:n.1611+222A>C
XM_017000660.2:c.1200+222A>C XP_016856149.1:n.1200+222A>C
NM_000130.5:c.1611+222A>C MANE Select NP_000121.2:n.1611+222A>C
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