Canonical Allele Identifier: CA10568415
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 488511
ClinVar RCV Id: RCV000578443
dbSNP Id: rs782657516

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154956961T>C , CM000685.2:g.154956961T>C GRCh38
NC_000023.10:g.154185236T>C , CM000685.1:g.154185236T>C GRCh37
NC_000023.9:g.153838430T>C NCBI36
NG_011403.1:g.70763A>G
NG_011403.2:g.70763A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1748A>G MANE Select ENSP00000353393.4:p.Asn583Ser
ENST00000647125.1:c.*1624A>G ENSP00000496062.1:n.*1624A>G
ENST00000360256.8:c.1748A>G ENSP00000353393.4:p.Asn583Ser
NM_000132.3:c.1748A>G NP_000123.1:p.Asn583Ser
XM_011531126.1:c.1643A>G XP_011529428.1:p.Asn548Ser
NM_000132.4:c.1748A>G MANE Select NP_000123.1:p.Asn583Ser