Canonical Allele Identifier: CA343128795

Gene: F5

Linked Data

• MyVariant Identifiers: chr1:g.169521912T>A (hg19) ; chr1:g.169552674T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169552674T>A , CM000663.2:g.169552674T>A	GRCh38
NC_000001.10:g.169521912T>A , CM000663.1:g.169521912T>A	GRCh37
NC_000001.9:g.167788536T>A	NCBI36
NG_011806.1:g.38858A>T , LRG_553:g.38858A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.1179A>T MANE Select	ENSP00000356771.3:p.Lys393Asn
ENST00000367796.3:c.1179A>T	ENSP00000356770.3:p.Lys393Asn
ENST00000367797.7:c.1179A>T	ENSP00000356771.3:p.Lys393Asn
NM_000130.4:c.1179A>T , LRG_553t1:c.1179A>T	NP_000121.2:p.Lys393Asn
XM_017000660.2:c.768A>T	XP_016856149.1:p.Lys256Asn
NM_000130.5:c.1179A>T MANE Select	NP_000121.2:p.Lys393Asn