Canonical Allele Identifier: CA343141931

Gene: F5

Linked Data

• MyVariant Identifiers: chr1:g.169541482A>T (hg19) ; chr1:g.169572244A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169572244A>T , CM000663.2:g.169572244A>T	GRCh38
NC_000001.10:g.169541482A>T , CM000663.1:g.169541482A>T	GRCh37
NC_000001.9:g.167808106A>T	NCBI36
NG_011806.1:g.19288T>A , LRG_553:g.19288T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.350T>A MANE Select	ENSP00000356771.3:p.Ile117Asn
ENST00000367796.3:c.350T>A	ENSP00000356770.3:p.Ile117Asn
ENST00000367797.7:c.350T>A	ENSP00000356771.3:p.Ile117Asn
NM_000130.4:c.350T>A , LRG_553t1:c.350T>A	NP_000121.2:p.Ile117Asn
XM_017000660.2:c.-62T>A	XP_016856149.1:n.-62T>A
NM_000130.5:c.350T>A MANE Select	NP_000121.2:p.Ile117Asn