Canonical Allele Identifier: CA343132635

Gene: F5

Linked Data

• dbSNP Id: rs1409754449
• gnomAD v2: 1-169524580-T-A
• gnomAD v3: 1-169555342-T-A
• gnomAD v4: 1-169555342-T-A
• MyVariant Identifiers: chr1:g.169524580T>A (hg19) ; chr1:g.169555342T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169555342T>A , CM000663.2:g.169555342T>A	GRCh38
NC_000001.10:g.169524580T>A , CM000663.1:g.169524580T>A	GRCh37
NC_000001.9:g.167791204T>A	NCBI36
NG_011806.1:g.36190A>T , LRG_553:g.36190A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.958A>T MANE Select	ENSP00000356771.3:p.Met320Leu
ENST00000367796.3:c.958A>T	ENSP00000356770.3:p.Met320Leu
ENST00000367797.7:c.958A>T	ENSP00000356771.3:p.Met320Leu
NM_000130.4:c.958A>T , LRG_553t1:c.958A>T	NP_000121.2:p.Met320Leu
XM_017000660.2:c.547A>T	XP_016856149.1:p.Met183Leu
NM_000130.5:c.958A>T MANE Select	NP_000121.2:p.Met320Leu