Canonical Allele Identifier: CA414912323
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154957159A>G , CM000685.2:g.154957159A>G GRCh38
NC_000023.10:g.154185434A>G , CM000685.1:g.154185434A>G GRCh37
NC_000023.9:g.153838628A>G NCBI36
NG_011403.1:g.70565T>C
NG_011403.2:g.70565T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1550T>C MANE Select ENSP00000353393.4:p.Leu517Ser
ENST00000647125.1:c.*1426T>C ENSP00000496062.1:n.*1426T>C
ENST00000360256.8:c.1550T>C ENSP00000353393.4:p.Leu517Ser
NM_000132.3:c.1550T>C NP_000123.1:p.Leu517Ser
XM_011531126.1:c.1445T>C XP_011529428.1:p.Leu482Ser
NM_000132.4:c.1550T>C MANE Select NP_000123.1:p.Leu517Ser