Canonical Allele Identifier: CA421930740

Gene: F5

Linked Data

• dbSNP Id: rs1659864831
• gnomAD v3: 1-169541982-C-T
• gnomAD v4: 1-169541982-C-T
• MyVariant Identifiers: chr1:g.169511220C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541982C>T , CM000663.2:g.169541982C>T	GRCh38
NC_000001.10:g.169511220C>T , CM000663.1:g.169511220C>T	GRCh37
NC_000001.9:g.167777844C>T	NCBI36
NG_011806.1:g.49550G>A , LRG_553:g.49550G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.3108G>A MANE Select	ENSP00000356771.3:p.Lys1036=
ENST00000367796.3:c.3123G>A	ENSP00000356770.3:p.Lys1041=
ENST00000367797.7:c.3108G>A	ENSP00000356771.3:p.Lys1036=
NM_000130.4:c.3108G>A , LRG_553t1:c.3108G>A	NP_000121.2:p.Lys1036=
XM_017000660.2:c.2697G>A	XP_016856149.1:p.Lys899=
NM_000130.5:c.3108G>A MANE Select	NP_000121.2:p.Lys1036=