Canonical Allele Identifier: CA343146295

Gene: F5

Linked Data

• dbSNP Id: rs2101818290
• MyVariant Identifiers: chr1:g.169510364A>G (hg19) ; chr1:g.169541126A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541126A>G , CM000663.2:g.169541126A>G	GRCh38
NC_000001.10:g.169510364A>G , CM000663.1:g.169510364A>G	GRCh37
NC_000001.9:g.167776988A>G	NCBI36
NG_011806.1:g.50406T>C , LRG_553:g.50406T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367797.9:c.3964T>C MANE Select	ENSP00000356771.3:p.Ser1322Pro
ENST00000367796.3:c.3979T>C	ENSP00000356770.3:p.Ser1327Pro
ENST00000367797.7:c.3964T>C	ENSP00000356771.3:p.Ser1322Pro
NM_000130.4:c.3964T>C , LRG_553t1:c.3964T>C	NP_000121.2:p.Ser1322Pro
XM_017000660.2:c.3553T>C	XP_016856149.1:p.Ser1185Pro
NM_000130.5:c.3964T>C MANE Select	NP_000121.2:p.Ser1322Pro