Canonical Allele Identifier: CA414917291
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154966670C>G , CM000685.2:g.154966670C>G GRCh38
NC_000023.10:g.154194945C>G , CM000685.1:g.154194945C>G GRCh37
NC_000023.9:g.153848139C>G NCBI36
NG_011403.1:g.61054G>C
NG_011403.2:g.61054G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1027G>C MANE Select ENSP00000353393.4:p.Val343Leu
ENST00000647125.1:c.*903G>C ENSP00000496062.1:n.*903G>C
ENST00000360256.8:c.1027G>C ENSP00000353393.4:p.Val343Leu
NM_000132.3:c.1027G>C NP_000123.1:p.Val343Leu
XM_011531126.1:c.922G>C XP_011529428.1:p.Val308Leu
NM_000132.4:c.1027G>C MANE Select NP_000123.1:p.Val343Leu