Canonical Allele Identifier: CA343130604

Gene: F5

Linked Data

• MyVariant Identifiers: chr1:g.169498980A>C (hg19) ; chr1:g.169529742A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169529742A>C , CM000663.2:g.169529742A>C	GRCh38
NC_000001.10:g.169498980A>C , CM000663.1:g.169498980A>C	GRCh37
NC_000001.9:g.167765604A>C	NCBI36
NG_011806.1:g.61790T>G , LRG_553:g.61790T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367797.9:c.5285T>G MANE Select	ENSP00000356771.3:p.Met1762Arg
ENST00000367796.3:c.5300T>G	ENSP00000356770.3:p.Met1767Arg
ENST00000367797.7:c.5285T>G	ENSP00000356771.3:p.Met1762Arg
NM_000130.4:c.5285T>G , LRG_553t1:c.5285T>G	NP_000121.2:p.Met1762Arg
XM_017000660.2:c.4874T>G	XP_016856149.1:p.Met1625Arg
NM_000130.5:c.5285T>G MANE Select	NP_000121.2:p.Met1762Arg