Canonical Allele Identifier: CA414919639
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154993064T>A , CM000685.2:g.154993064T>A GRCh38
NC_000023.10:g.154221339T>A , CM000685.1:g.154221339T>A GRCh37
NC_000023.9:g.153874533T>A NCBI36
NG_011403.1:g.34660A>T
NG_011403.2:g.34660A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.473A>T MANE Select ENSP00000353393.4:p.Gln158Leu
ENST00000647125.1:c.*259A>T ENSP00000496062.1:n.*259A>T
ENST00000360256.8:c.473A>T ENSP00000353393.4:p.Gln158Leu
ENST00000423959.5:c.368A>T ENSP00000409446.1:p.Gln123Leu
ENST00000453950.1:c.455A>T ENSP00000389153.1:p.Gln152Leu
NM_000132.3:c.473A>T NP_000123.1:p.Gln158Leu
XM_011531126.1:c.368A>T XP_011529428.1:p.Gln123Leu
NM_000132.4:c.473A>T MANE Select NP_000123.1:p.Gln158Leu