Canonical Allele Identifier: CA414909232
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154947761C>G , CM000685.2:g.154947761C>G GRCh38
NC_000023.10:g.154176036C>G , CM000685.1:g.154176036C>G GRCh37
NC_000023.9:g.153829230C>G NCBI36
NG_011403.1:g.79963G>C
NG_011403.2:g.79963G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.2050G>C MANE Select ENSP00000353393.4:p.Glu684Gln
ENST00000647125.1:c.*1779+6131G>C ENSP00000496062.1:n.*1779+6131G>C
ENST00000360256.8:c.2050G>C ENSP00000353393.4:p.Glu684Gln
NM_000132.3:c.2050G>C NP_000123.1:p.Glu684Gln
XM_011531126.1:c.1945G>C XP_011529428.1:p.Glu649Gln
NM_000132.4:c.2050G>C MANE Select NP_000123.1:p.Glu684Gln