Canonical Allele Identifier: CA343118356

Gene: F5

Linked Data

• dbSNP Id: rs1659857890
• MyVariant Identifiers: chr1:g.169510972T>G (hg19) ; chr1:g.169541734T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541734T>G , CM000663.2:g.169541734T>G	GRCh38
NC_000001.10:g.169510972T>G , CM000663.1:g.169510972T>G	GRCh37
NC_000001.9:g.167777596T>G	NCBI36
NG_011806.1:g.49798A>C , LRG_553:g.49798A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.3356A>C MANE Select	ENSP00000356771.3:p.Gln1119Pro
ENST00000367796.3:c.3371A>C	ENSP00000356770.3:p.Gln1124Pro
ENST00000367797.7:c.3356A>C	ENSP00000356771.3:p.Gln1119Pro
NM_000130.4:c.3356A>C , LRG_553t1:c.3356A>C	NP_000121.2:p.Gln1119Pro
XM_017000660.2:c.2945A>C	XP_016856149.1:p.Gln982Pro
NM_000130.5:c.3356A>C MANE Select	NP_000121.2:p.Gln1119Pro