Canonical Allele Identifier: CA343119334

Gene: F5

Linked Data

• COSMIC: COSM899280
• MyVariant Identifiers: chr1:g.169511252G>T (hg19) ; chr1:g.169542014G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169542014G>T , CM000663.2:g.169542014G>T	GRCh38
NC_000001.10:g.169511252G>T , CM000663.1:g.169511252G>T	GRCh37
NC_000001.9:g.167777876G>T	NCBI36
NG_011806.1:g.49518C>A , LRG_553:g.49518C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.3076C>A MANE Select	ENSP00000356771.3:p.Leu1026Ile
ENST00000367796.3:c.3091C>A	ENSP00000356770.3:p.Leu1031Ile
ENST00000367797.7:c.3076C>A	ENSP00000356771.3:p.Leu1026Ile
NM_000130.4:c.3076C>A , LRG_553t1:c.3076C>A	NP_000121.2:p.Leu1026Ile
XM_017000660.2:c.2665C>A	XP_016856149.1:p.Leu889Ile
NM_000130.5:c.3076C>A MANE Select	NP_000121.2:p.Leu1026Ile