Canonical Allele Identifier: CA414920737
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.155022548T>A , CM000685.2:g.155022548T>A GRCh38
NC_000023.10:g.154250823T>A , CM000685.1:g.154250823T>A GRCh37
NC_000023.9:g.153904017T>A NCBI36
NG_011403.1:g.5176A>T
NG_011403.2:g.5176A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5A>T MANE Select ENSP00000353393.4:p.Gln2Leu
ENST00000647125.1:c.5A>T ENSP00000496062.1:p.Gln2Leu
ENST00000360256.8:c.5A>T ENSP00000353393.4:p.Gln2Leu
ENST00000423959.5:c.38+4232A>T ENSP00000409446.1:n.38+4232A>T
ENST00000453950.1:c.39-52A>T ENSP00000389153.1:n.39-52A>T
NM_000132.3:c.5A>T NP_000123.1:p.Gln2Leu
XM_011531126.1:c.38+4232A>T XP_011529428.1:n.38+4232A>T
NM_000132.4:c.5A>T MANE Select NP_000123.1:p.Gln2Leu