Canonical Allele Identifier: CA255046
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10153
ClinVar RCV Id: RCV000010866
dbSNP Id: rs137852377

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.155022476A>C , CM000685.2:g.155022476A>C GRCh38
NC_000023.10:g.154250751A>C , CM000685.1:g.154250751A>C GRCh37
NC_000023.9:g.153903945A>C NCBI36
NG_011403.1:g.5248T>G
NG_011403.2:g.5248T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.77T>G MANE Select ENSP00000353393.4:p.Leu26Arg
ENST00000647125.1:c.77T>G ENSP00000496062.1:p.Leu26Arg
ENST00000360256.8:c.77T>G ENSP00000353393.4:p.Leu26Arg
ENST00000423959.5:c.38+4304T>G ENSP00000409446.1:n.38+4304T>G
ENST00000453950.1:c.59T>G ENSP00000389153.1:p.Leu20Arg
NM_000132.3:c.77T>G NP_000123.1:p.Leu26Arg
XM_011531126.1:c.38+4304T>G XP_011529428.1:n.38+4304T>G
NM_000132.4:c.77T>G MANE Select NP_000123.1:p.Leu26Arg