Canonical Allele Identifier: CA1233531
Gene: F5 HGNC NCBI

Linked Data

dbSNP Id: rs776238126
ExAC: 1:169498982 G / A
gnomAD v2: 1-169498982-G-A
gnomAD v4: 1-169529744-G-A
MyVariant Identifiers: chr1:g.169498982G>A (hg19) chr1:g.169529744G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169529744G>A , CM000663.2:g.169529744G>A GRCh38
NC_000001.10:g.169498982G>A , CM000663.1:g.169498982G>A GRCh37
NC_000001.9:g.167765606G>A NCBI36
NG_011806.1:g.61788C>T , LRG_553:g.61788C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367797.9:c.5283C>T MANE Select ENSP00000356771.3:p.Asn1761=
ENST00000367796.3:c.5298C>T ENSP00000356770.3:p.Asn1766=
ENST00000367797.7:c.5283C>T ENSP00000356771.3:p.Asn1761=
NM_000130.4:c.5283C>T , LRG_553t1:c.5283C>T NP_000121.2:p.Asn1761=
XM_017000660.2:c.4872C>T XP_016856149.1:p.Asn1624=
NM_000130.5:c.5283C>T MANE Select NP_000121.2:p.Asn1761=
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