Canonical Allele Identifier: CA10567921
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2477679
ClinVar RCV Id: RCV003204015
dbSNP Id: rs781882407

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154903927C>A , CM000685.2:g.154903927C>A GRCh38
NC_000023.10:g.154132202C>A , CM000685.1:g.154132202C>A GRCh37
NC_000023.9:g.153785396C>A NCBI36
NG_011403.1:g.123797G>T
NG_011403.2:g.123797G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5977G>T MANE Select ENSP00000353393.4:p.Ala1993Ser
ENST00000360256.8:c.5977G>T ENSP00000353393.4:p.Ala1993Ser
NM_000132.3:c.5977G>T NP_000123.1:p.Ala1993Ser
XM_011531126.1:c.5872G>T XP_011529428.1:p.Ala1958Ser
NM_000132.4:c.5977G>T MANE Select NP_000123.1:p.Ala1993Ser