Canonical Allele Identifier: CA414919999
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154997033T>G , CM000685.2:g.154997033T>G GRCh38
NC_000023.10:g.154225308T>G , CM000685.1:g.154225308T>G GRCh37
NC_000023.9:g.153878502T>G NCBI36
NG_011403.1:g.30691A>C
NG_011403.2:g.30691A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.328A>C MANE Select ENSP00000353393.4:p.Met110Leu
ENST00000647125.1:c.*114A>C ENSP00000496062.1:n.*114A>C
ENST00000360256.8:c.328A>C ENSP00000353393.4:p.Met110Leu
ENST00000423959.5:c.223A>C ENSP00000409446.1:p.Met75Leu
ENST00000453950.1:c.310A>C ENSP00000389153.1:p.Met104Leu
NM_000132.3:c.328A>C NP_000123.1:p.Met110Leu
XM_011531126.1:c.223A>C XP_011529428.1:p.Met75Leu
NM_000132.4:c.328A>C MANE Select NP_000123.1:p.Met110Leu