Canonical Allele Identifier: CA414913786
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2363422
ClinVar RCV Id: RCV002990118
dbSNP Id: rs782740320

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928654C>G , CM000685.2:g.154928654C>G GRCh38
NC_000023.10:g.154156929C>G , CM000685.1:g.154156929C>G GRCh37
NC_000023.9:g.153810123C>G NCBI36
NG_011403.1:g.99070G>C
NG_011403.2:g.99070G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5136G>C MANE Select ENSP00000353393.4:p.Lys1712Asn
ENST00000360256.8:c.5136G>C ENSP00000353393.4:p.Lys1712Asn
NM_000132.3:c.5136G>C NP_000123.1:p.Lys1712Asn
XM_011531126.1:c.5031G>C XP_011529428.1:p.Lys1677Asn
NM_000132.4:c.5136G>C MANE Select NP_000123.1:p.Lys1712Asn