Canonical Allele Identifier: CA414919422
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154992965A>C , CM000685.2:g.154992965A>C GRCh38
NC_000023.10:g.154221240A>C , CM000685.1:g.154221240A>C GRCh37
NC_000023.9:g.153874434A>C NCBI36
NG_011403.1:g.34759T>G
NG_011403.2:g.34759T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.572T>G MANE Select ENSP00000353393.4:p.Leu191Arg
ENST00000647125.1:c.*358T>G ENSP00000496062.1:n.*358T>G
ENST00000360256.8:c.572T>G ENSP00000353393.4:p.Leu191Arg
ENST00000423959.5:c.467T>G ENSP00000409446.1:p.Leu156Arg
NM_000132.3:c.572T>G NP_000123.1:p.Leu191Arg
XM_011531126.1:c.467T>G XP_011529428.1:p.Leu156Arg
NM_000132.4:c.572T>G MANE Select NP_000123.1:p.Leu191Arg