Canonical Allele Identifier: CA414919730
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154993103T>G , CM000685.2:g.154993103T>G GRCh38
NC_000023.10:g.154221378T>G , CM000685.1:g.154221378T>G GRCh37
NC_000023.9:g.153874572T>G NCBI36
NG_011403.1:g.34621A>C
NG_011403.2:g.34621A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.434A>C MANE Select ENSP00000353393.4:p.Asp145Ala
ENST00000647125.1:c.*220A>C ENSP00000496062.1:n.*220A>C
ENST00000360256.8:c.434A>C ENSP00000353393.4:p.Asp145Ala
ENST00000423959.5:c.329A>C ENSP00000409446.1:p.Asp110Ala
ENST00000453950.1:c.416A>C ENSP00000389153.1:p.Asp139Ala
NM_000132.3:c.434A>C NP_000123.1:p.Asp145Ala
XM_011531126.1:c.329A>C XP_011529428.1:p.Asp110Ala
NM_000132.4:c.434A>C MANE Select NP_000123.1:p.Asp145Ala