Canonical Allele Identifier: CA255184
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10294
ClinVar RCV Id: RCV000011007
dbSNP Id: rs28933682
MyVariant Identifiers: chrX:g.154132357T>C (hg19) chrX:g.154904082T>C (hg38)
ERepo: CA255184/MONDO:0010602/071
PubMed: PMID:1301932 PMID:1908096 PMID:21217077
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904082T>C , CM000685.2:g.154904082T>C GRCh38
NC_000023.10:g.154132357T>C , CM000685.1:g.154132357T>C GRCh37
NC_000023.9:g.153785551T>C NCBI36
NG_011403.1:g.123642A>G
NG_011403.2:g.123642A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5822A>G MANE Select ENSP00000353393.4:p.Asn1941Ser
ENST00000360256.8:c.5822A>G ENSP00000353393.4:p.Asn1941Ser
NM_000132.3:c.5822A>G NP_000123.1:p.Asn1941Ser
XM_011531126.1:c.5717A>G XP_011529428.1:p.Asn1906Ser
NM_000132.4:c.5822A>G MANE Select NP_000123.1:p.Asn1941Ser
Search 100 bp 5'
Search 100 bp 3'