Canonical Allele Identifier: CA421738307

Gene: F5

Linked Data

• ClinVar Variation Id: 2797260
• ClinVar RCV Id: RCV003762336
• MyVariant Identifiers: chr1:g.169541568A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169572330A>G , CM000663.2:g.169572330A>G	GRCh38
NC_000001.10:g.169541568A>G , CM000663.1:g.169541568A>G	GRCh37
NC_000001.9:g.167808192A>G	NCBI36
NG_011806.1:g.19202T>C , LRG_553:g.19202T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.264T>C MANE Select	ENSP00000356771.3:p.Pro88=
ENST00000367796.3:c.264T>C	ENSP00000356770.3:p.Pro88=
ENST00000367797.7:c.264T>C	ENSP00000356771.3:p.Pro88=
NM_000130.4:c.264T>C , LRG_553t1:c.264T>C	NP_000121.2:p.Pro88=
XM_017000660.2:c.-148T>C	XP_016856149.1:n.-148T>C
NM_000130.5:c.264T>C MANE Select	NP_000121.2:p.Pro88=