Canonical Allele Identifier: CA10568028
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs782054877
ExAC: X:154156864 G / T
gnomAD v2: X-154156864-G-T
gnomAD v3: X-154928589-G-T
gnomAD v4: X-154928589-G-T
MyVariant Identifiers: chrX:g.154156864G>T (hg19) chrX:g.154928589G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928589G>T , CM000685.2:g.154928589G>T GRCh38
NC_000023.10:g.154156864G>T , CM000685.1:g.154156864G>T GRCh37
NC_000023.9:g.153810058G>T NCBI36
NG_011403.1:g.99135C>A
NG_011403.2:g.99135C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5201C>A MANE Select ENSP00000353393.4:p.Pro1734Gln
ENST00000360256.8:c.5201C>A ENSP00000353393.4:p.Pro1734Gln
NM_000132.3:c.5201C>A NP_000123.1:p.Pro1734Gln
XM_011531126.1:c.5096C>A XP_011529428.1:p.Pro1699Gln
NM_000132.4:c.5201C>A MANE Select NP_000123.1:p.Pro1734Gln
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