Canonical Allele Identifier: CA526710744
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs1241654332
gnomAD v2: 1-169501722-G-A
gnomAD v3: 1-169532484-G-A
gnomAD v4: 1-169532484-G-A
MyVariant Identifiers: chr1:g.169501722G>A (hg19) chr1:g.169532484G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169532484G>A , CM000663.2:g.169532484G>A GRCh38
NC_000001.10:g.169501722G>A , CM000663.1:g.169501722G>A GRCh37
NC_000001.9:g.167768346G>A NCBI36
NG_011806.1:g.59048C>T , LRG_553:g.59048C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.4972-1462C>T MANE Select ENSP00000356771.3:n.4972-1462C>T
ENST00000367796.3:c.4987-1462C>T ENSP00000356770.3:n.4987-1462C>T
ENST00000367797.7:c.4972-1462C>T ENSP00000356771.3:n.4972-1462C>T
NM_000130.4:c.4972-1462C>T , LRG_553t1:c.4972-1462C>T NP_000121.2:n.4972-1462C>T
XM_017000660.2:c.4561-1462C>T XP_016856149.1:n.4561-1462C>T
NM_000130.5:c.4972-1462C>T MANE Select NP_000121.2:n.4972-1462C>T
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