Canonical Allele Identifier: CA255130
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10237
ClinVar RCV Id: RCV000010950
dbSNP Id: rs137852429
MyVariant Identifiers: chrX:g.154182178T>C (hg19) chrX:g.154953903T>C (hg38)
PubMed: PMID:7728145
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154953903T>C , CM000685.2:g.154953903T>C GRCh38
NC_000023.10:g.154182178T>C , CM000685.1:g.154182178T>C GRCh37
NC_000023.9:g.153835372T>C NCBI36
NG_011403.1:g.73821A>G
NG_011403.2:g.73821A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1892A>G MANE Select ENSP00000353393.4:p.Asn631Ser
ENST00000647125.1:c.*1768A>G ENSP00000496062.1:n.*1768A>G
ENST00000360256.8:c.1892A>G ENSP00000353393.4:p.Asn631Ser
NM_000132.3:c.1892A>G NP_000123.1:p.Asn631Ser
XM_011531126.1:c.1787A>G XP_011529428.1:p.Asn596Ser
NM_000132.4:c.1892A>G MANE Select NP_000123.1:p.Asn631Ser
Search 100 bp 5'
Search 100 bp 3'