Canonical Allele Identifier: CA10568034
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs782088688
ExAC: X:154156925 T / G
gnomAD v2: X-154156925-T-G
MyVariant Identifiers: chrX:g.154156925T>G (hg19) chrX:g.154928650T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928650T>G , CM000685.2:g.154928650T>G GRCh38
NC_000023.10:g.154156925T>G , CM000685.1:g.154156925T>G GRCh37
NC_000023.9:g.153810119T>G NCBI36
NG_011403.1:g.99074A>C
NG_011403.2:g.99074A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5140A>C MANE Select ENSP00000353393.4:p.Thr1714Pro
ENST00000360256.8:c.5140A>C ENSP00000353393.4:p.Thr1714Pro
NM_000132.3:c.5140A>C NP_000123.1:p.Thr1714Pro
XM_011531126.1:c.5035A>C XP_011529428.1:p.Thr1679Pro
NM_000132.4:c.5140A>C MANE Select NP_000123.1:p.Thr1714Pro
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