Canonical Allele Identifier: CA414919618
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154993054T>A , CM000685.2:g.154993054T>A GRCh38
NC_000023.10:g.154221329T>A , CM000685.1:g.154221329T>A GRCh37
NC_000023.9:g.153874523T>A NCBI36
NG_011403.1:g.34670A>T
NG_011403.2:g.34670A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.483A>T MANE Select ENSP00000353393.4:p.Lys161Asn
ENST00000647125.1:c.*269A>T ENSP00000496062.1:n.*269A>T
ENST00000360256.8:c.483A>T ENSP00000353393.4:p.Lys161Asn
ENST00000423959.5:c.378A>T ENSP00000409446.1:p.Lys126Asn
ENST00000453950.1:c.465A>T ENSP00000389153.1:p.Lys155Asn
NM_000132.3:c.483A>T NP_000123.1:p.Lys161Asn
XM_011531126.1:c.378A>T XP_011529428.1:p.Lys126Asn
NM_000132.4:c.483A>T MANE Select NP_000123.1:p.Lys161Asn