Canonical Allele Identifier: CA343117956

Gene: F5

Linked Data

• COSMIC: COSM6122299
• MyVariant Identifiers: chr1:g.169510906G>T (hg19) ; chr1:g.169541668G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541668G>T , CM000663.2:g.169541668G>T	GRCh38
NC_000001.10:g.169510906G>T , CM000663.1:g.169510906G>T	GRCh37
NC_000001.9:g.167777530G>T	NCBI36
NG_011806.1:g.49864C>A , LRG_553:g.49864C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.3422C>A MANE Select	ENSP00000356771.3:p.Thr1141Asn
ENST00000367796.3:c.3437C>A	ENSP00000356770.3:p.Thr1146Asn
ENST00000367797.7:c.3422C>A	ENSP00000356771.3:p.Thr1141Asn
NM_000130.4:c.3422C>A , LRG_553t1:c.3422C>A	NP_000121.2:p.Thr1141Asn
XM_017000660.2:c.3011C>A	XP_016856149.1:p.Thr1004Asn
NM_000130.5:c.3422C>A MANE Select	NP_000121.2:p.Thr1141Asn