Canonical Allele Identifier: CA10567974
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs782426204
ExAC: X:154133249 A / G
gnomAD v2: X-154133249-A-G
gnomAD v4: X-154904974-A-G
MyVariant Identifiers: chrX:g.154133249A>G (hg19) chrX:g.154904974A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904974A>G , CM000685.2:g.154904974A>G GRCh38
NC_000023.10:g.154133249A>G , CM000685.1:g.154133249A>G GRCh37
NC_000023.9:g.153786443A>G NCBI36
NG_011403.1:g.122750T>C
NG_011403.2:g.122750T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5423T>C MANE Select ENSP00000353393.4:p.Leu1808Pro
ENST00000360256.8:c.5423T>C ENSP00000353393.4:p.Leu1808Pro
NM_000132.3:c.5423T>C NP_000123.1:p.Leu1808Pro
XM_011531126.1:c.5318T>C XP_011529428.1:p.Leu1773Pro
NM_000132.4:c.5423T>C MANE Select NP_000123.1:p.Leu1808Pro
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