Canonical Allele Identifier: CA343142080

Gene: F5

Linked Data

• gnomAD v4: 1-169572286-T-G
• MyVariant Identifiers: chr1:g.169541524T>G (hg19) ; chr1:g.169572286T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169572286T>G , CM000663.2:g.169572286T>G	GRCh38
NC_000001.10:g.169541524T>G , CM000663.1:g.169541524T>G	GRCh37
NC_000001.9:g.167808148T>G	NCBI36
NG_011806.1:g.19246A>C , LRG_553:g.19246A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367797.9:c.308A>C MANE Select	ENSP00000356771.3:p.Lys103Thr
ENST00000367796.3:c.308A>C	ENSP00000356770.3:p.Lys103Thr
ENST00000367797.7:c.308A>C	ENSP00000356771.3:p.Lys103Thr
NM_000130.4:c.308A>C , LRG_553t1:c.308A>C	NP_000121.2:p.Lys103Thr
XM_017000660.2:c.-104A>C	XP_016856149.1:n.-104A>C
NM_000130.5:c.308A>C MANE Select	NP_000121.2:p.Lys103Thr