Canonical Allele Identifier: CA343117964

Gene: F5

Linked Data

• gnomAD v4: 1-169541671-G-C
• MyVariant Identifiers: chr1:g.169510909G>C (hg19) ; chr1:g.169541671G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541671G>C , CM000663.2:g.169541671G>C	GRCh38
NC_000001.10:g.169510909G>C , CM000663.1:g.169510909G>C	GRCh37
NC_000001.9:g.167777533G>C	NCBI36
NG_011806.1:g.49861C>G , LRG_553:g.49861C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.3419C>G MANE Select	ENSP00000356771.3:p.Ser1140Cys
ENST00000367796.3:c.3434C>G	ENSP00000356770.3:p.Ser1145Cys
ENST00000367797.7:c.3419C>G	ENSP00000356771.3:p.Ser1140Cys
NM_000130.4:c.3419C>G , LRG_553t1:c.3419C>G	NP_000121.2:p.Ser1140Cys
XM_017000660.2:c.3008C>G	XP_016856149.1:p.Ser1003Cys
NM_000130.5:c.3419C>G MANE Select	NP_000121.2:p.Ser1140Cys