Canonical Allele Identifier: CA343119314

Gene: F5

Linked Data

• gnomAD v4: 1-169542006-C-A
• MyVariant Identifiers: chr1:g.169511244C>A (hg19) ; chr1:g.169542006C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169542006C>A , CM000663.2:g.169542006C>A	GRCh38
NC_000001.10:g.169511244C>A , CM000663.1:g.169511244C>A	GRCh37
NC_000001.9:g.167777868C>A	NCBI36
NG_011806.1:g.49526G>T , LRG_553:g.49526G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.3084G>T MANE Select	ENSP00000356771.3:p.Lys1028Asn
ENST00000367796.3:c.3099G>T	ENSP00000356770.3:p.Lys1033Asn
ENST00000367797.7:c.3084G>T	ENSP00000356771.3:p.Lys1028Asn
NM_000130.4:c.3084G>T , LRG_553t1:c.3084G>T	NP_000121.2:p.Lys1028Asn
XM_017000660.2:c.2673G>T	XP_016856149.1:p.Lys891Asn
NM_000130.5:c.3084G>T MANE Select	NP_000121.2:p.Lys1028Asn