Canonical Allele Identifier: CA421930518
Community Standard Title: NM_000130.5(F5):c.3751T>C (p.Leu1251=)
Gene: F5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169541339A>G , CM000663.2:g.169541339A>G GRCh38
NC_000001.10:g.169510577A>G , CM000663.1:g.169510577A>G GRCh37
NC_000001.9:g.167777201A>G NCBI36
NG_011806.1:g.50193T>C , LRG_553:g.50193T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000130.5:c.3751T>C MANE Select NP_000121.2:p.Leu1251=
ENST00000367797.9:c.3751T>C MANE Select ENSP00000356771.3:p.Leu1251=
NM_000130.4:c.3751T>C , LRG_553t1:c.3751T>C NP_000121.2:p.Leu1251=
ENST00000367796.3:c.3766T>C ENSP00000356770.3:p.Leu1256=
ENST00000367797.7:c.3751T>C ENSP00000356771.3:p.Leu1251=
XM_017000660.2:c.3340T>C XP_016856149.1:p.Leu1114=