Canonical Allele Identifier: CA1233965

Gene: F5

Linked Data

• dbSNP Id: rs769845276
• ExAC: 1:169511183 G / A
• gnomAD v2: 1-169511183-G-A
• gnomAD v4: 1-169541945-G-A
• MyVariant Identifiers: chr1:g.169511183G>A (hg19) ; chr1:g.169541945G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541945G>A , CM000663.2:g.169541945G>A	GRCh38
NC_000001.10:g.169511183G>A , CM000663.1:g.169511183G>A	GRCh37
NC_000001.9:g.167777807G>A	NCBI36
NG_011806.1:g.49587C>T , LRG_553:g.49587C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.3145C>T MANE Select	ENSP00000356771.3:p.His1049Tyr
ENST00000367796.3:c.3160C>T	ENSP00000356770.3:p.His1054Tyr
ENST00000367797.7:c.3145C>T	ENSP00000356771.3:p.His1049Tyr
NM_000130.4:c.3145C>T , LRG_553t1:c.3145C>T	NP_000121.2:p.His1049Tyr
XM_017000660.2:c.2734C>T	XP_016856149.1:p.His912Tyr
NM_000130.5:c.3145C>T MANE Select	NP_000121.2:p.His1049Tyr