Canonical Allele Identifier: CA526710746
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1189444664
gnomAD v2: 1-169501743-T-G
gnomAD v3: 1-169532505-T-G
gnomAD v4: 1-169532505-T-G
MyVariant Identifiers: chr1:g.169501743T>G (hg19) chr1:g.169532505T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169532505T>G , CM000663.2:g.169532505T>G GRCh38
NC_000001.10:g.169501743T>G , CM000663.1:g.169501743T>G GRCh37
NC_000001.9:g.167768367T>G NCBI36
NG_011806.1:g.59027A>C , LRG_553:g.59027A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367797.9:c.4972-1483A>C MANE Select ENSP00000356771.3:n.4972-1483A>C
ENST00000367796.3:c.4987-1483A>C ENSP00000356770.3:n.4987-1483A>C
ENST00000367797.7:c.4972-1483A>C ENSP00000356771.3:n.4972-1483A>C
NM_000130.4:c.4972-1483A>C , LRG_553t1:c.4972-1483A>C NP_000121.2:n.4972-1483A>C
XM_017000660.2:c.4561-1483A>C XP_016856149.1:n.4561-1483A>C
NM_000130.5:c.4972-1483A>C MANE Select NP_000121.2:n.4972-1483A>C
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