Canonical Allele Identifier: CA10608151

Gene: F5

Linked Data

• ClinVar Variation Id: 293568
• ClinVar RCV Id: RCV000277790 ; RCV000289930 ; RCV000325804 ; RCV000347344
• dbSNP Id: rs886045539
• gnomAD v4: 1-169514156-T-A
• MyVariant Identifiers: chr1:g.169483394T>A (hg19) ; chr1:g.169514156T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169514156T>A , CM000663.2:g.169514156T>A	GRCh38
NC_000001.10:g.169483394T>A , CM000663.1:g.169483394T>A	GRCh37
NC_000001.9:g.167750018T>A	NCBI36
NG_011806.1:g.77376A>T , LRG_553:g.77376A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367797.9:c.*157A>T MANE Select	ENSP00000356771.3:n.*157A>T
NM_000130.4:c.*157A>T , LRG_553t1:c.*157A>T	NP_000121.2:n.*157A>T
XM_017000660.2:c.*157A>T	XP_016856149.1:n.*157A>T
NM_000130.5:c.*157A>T MANE Select	NP_000121.2:n.*157A>T