Canonical Allele Identifier: CA10568065
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 3037084
ClinVar RCV Id: RCV003904765
dbSNP Id: rs782716237
ExAC: X:154157153 T / C
gnomAD v2: X-154157153-T-C
gnomAD v3: X-154928878-T-C
gnomAD v4: X-154928878-T-C
MyVariant Identifiers: chrX:g.154157153T>C (hg19) chrX:g.154928878T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928878T>C , CM000685.2:g.154928878T>C GRCh38
NC_000023.10:g.154157153T>C , CM000685.1:g.154157153T>C GRCh37
NC_000023.9:g.153810347T>C NCBI36
NG_011403.1:g.98846A>G
NG_011403.2:g.98846A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.4912A>G MANE Select ENSP00000353393.4:p.Lys1638Glu
ENST00000360256.8:c.4912A>G ENSP00000353393.4:p.Lys1638Glu
NM_000132.3:c.4912A>G NP_000123.1:p.Lys1638Glu
XM_011531126.1:c.4807A>G XP_011529428.1:p.Lys1603Glu
NM_000132.4:c.4912A>G MANE Select NP_000123.1:p.Lys1638Glu
Search 100 bp 5'
Search 100 bp 3'