Canonical Allele Identifier: CA10568511
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1163210
ClinVar RCV Id: RCV001508074 RCV002272475 RCV002246393
dbSNP Id: rs781954986
ExAC: X:154194954 C / T
gnomAD v2: X-154194954-C-T
gnomAD v3: X-154966679-C-T
gnomAD v4: X-154966679-C-T
MyVariant Identifiers: chrX:g.154194954C>T (hg19) chrX:g.154966679C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154966679C>T , CM000685.2:g.154966679C>T GRCh38
NC_000023.10:g.154194954C>T , CM000685.1:g.154194954C>T GRCh37
NC_000023.9:g.153848148C>T NCBI36
NG_011403.1:g.61045G>A
NG_011403.2:g.61045G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1018G>A MANE Select ENSP00000353393.4:p.Glu340Lys
ENST00000647125.1:c.*894G>A ENSP00000496062.1:n.*894G>A
ENST00000360256.8:c.1018G>A ENSP00000353393.4:p.Glu340Lys
NM_000132.3:c.1018G>A NP_000123.1:p.Glu340Lys
XM_011531126.1:c.913G>A XP_011529428.1:p.Glu305Lys
NM_000132.4:c.1018G>A MANE Select NP_000123.1:p.Glu340Lys
Search 100 bp 5'
Search 100 bp 3'