Canonical Allele Identifier: CA414911874
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2428751
ClinVar RCV Id: RCV003120352
dbSNP Id: rs782151721

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154957070A>G , CM000685.2:g.154957070A>G GRCh38
NC_000023.10:g.154185345A>G , CM000685.1:g.154185345A>G GRCh37
NC_000023.9:g.153838539A>G NCBI36
NG_011403.1:g.70654T>C
NG_011403.2:g.70654T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1639T>C MANE Select ENSP00000353393.4:p.Cys547Arg
ENST00000647125.1:c.*1515T>C ENSP00000496062.1:n.*1515T>C
ENST00000360256.8:c.1639T>C ENSP00000353393.4:p.Cys547Arg
NM_000132.3:c.1639T>C NP_000123.1:p.Cys547Arg
XM_011531126.1:c.1534T>C XP_011529428.1:p.Cys512Arg
NM_000132.4:c.1639T>C MANE Select NP_000123.1:p.Cys547Arg