Canonical Allele Identifier: CA10568029
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 798170
ClinVar RCV Id: RCV000981679
dbSNP Id: rs782324012
ExAC: X:154156865 G / A
gnomAD v2: X-154156865-G-A
gnomAD v3: X-154928590-G-A
gnomAD v4: X-154928590-G-A
MyVariant Identifiers: chrX:g.154156865G>A (hg19) chrX:g.154928590G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928590G>A , CM000685.2:g.154928590G>A GRCh38
NC_000023.10:g.154156865G>A , CM000685.1:g.154156865G>A GRCh37
NC_000023.9:g.153810059G>A NCBI36
NG_011403.1:g.99134C>T
NG_011403.2:g.99134C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5200C>T MANE Select ENSP00000353393.4:p.Pro1734Ser
ENST00000360256.8:c.5200C>T ENSP00000353393.4:p.Pro1734Ser
NM_000132.3:c.5200C>T NP_000123.1:p.Pro1734Ser
XM_011531126.1:c.5095C>T XP_011529428.1:p.Pro1699Ser
NM_000132.4:c.5200C>T MANE Select NP_000123.1:p.Pro1734Ser
Search 100 bp 5'
Search 100 bp 3'