Canonical Allele Identifier: CA337336646
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs137852371

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154966664C>G , CM000685.2:g.154966664C>G GRCh38
NC_000023.10:g.154194939C>G , CM000685.1:g.154194939C>G GRCh37
NC_000023.9:g.153848133C>G NCBI36
NG_011403.1:g.61060G>C
NG_011403.2:g.61060G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1033G>C MANE Select ENSP00000353393.4:p.Val345Leu
ENST00000647125.1:c.*909G>C ENSP00000496062.1:p.=
ENST00000360256.8:c.1033G>C ENSP00000353393.4:p.Val345Leu
NM_000132.3:c.1033G>C NP_000123.1:p.Val345Leu
XM_011531126.1:c.928G>C XP_011529428.1:p.Val310Leu
NM_000132.4:c.1033G>C MANE Select NP_000123.1:p.Val345Leu