Canonical Allele Identifier: CA414920715
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.155022539A>G , CM000685.2:g.155022539A>G GRCh38
NC_000023.10:g.154250814A>G , CM000685.1:g.154250814A>G GRCh37
NC_000023.9:g.153904008A>G NCBI36
NG_011403.1:g.5185T>C
NG_011403.2:g.5185T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.14T>C MANE Select ENSP00000353393.4:p.Leu5Pro
ENST00000647125.1:c.14T>C ENSP00000496062.1:p.Leu5Pro
ENST00000360256.8:c.14T>C ENSP00000353393.4:p.Leu5Pro
ENST00000423959.5:c.38+4241T>C ENSP00000409446.1:n.38+4241T>C
ENST00000453950.1:c.39-43T>C ENSP00000389153.1:n.39-43T>C
NM_000132.3:c.14T>C NP_000123.1:p.Leu5Pro
XM_011531126.1:c.38+4241T>C XP_011529428.1:n.38+4241T>C
NM_000132.4:c.14T>C MANE Select NP_000123.1:p.Leu5Pro