Canonical Allele Identifier: CA1008987175

Gene: F5

Linked Data

• dbSNP Id: rs1660747552
• gnomAD v3: 1-169572432-G-A
• gnomAD v4: 1-169572432-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169572432G>A , CM000663.2:g.169572432G>A	GRCh38
NC_000001.10:g.169541670G>A , CM000663.1:g.169541670G>A	GRCh37
NC_000001.9:g.167808294G>A	NCBI36
NG_011806.1:g.19100C>T , LRG_553:g.19100C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.251-89C>T MANE Select	ENSP00000356771.3:n.251-89C>T
ENST00000367796.3:c.251-89C>T	ENSP00000356770.3:n.251-89C>T
ENST00000367797.7:c.251-89C>T	ENSP00000356771.3:n.251-89C>T
NM_000130.4:c.251-89C>T , LRG_553t1:c.251-89C>T	NP_000121.2:n.251-89C>T
XM_017000660.2:c.-161-89C>T	XP_016856149.1:n.-161-89C>T
NM_000130.5:c.251-89C>T MANE Select	NP_000121.2:n.251-89C>T