Canonical Allele Identifier: CA10568030
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs782018961
ExAC: X:154156870 C / G
gnomAD v2: X-154156870-C-G
gnomAD v4: X-154928595-C-G
MyVariant Identifiers: chrX:g.154156870C>G (hg19) chrX:g.154928595C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928595C>G , CM000685.2:g.154928595C>G GRCh38
NC_000023.10:g.154156870C>G , CM000685.1:g.154156870C>G GRCh37
NC_000023.9:g.153810064C>G NCBI36
NG_011403.1:g.99129G>C
NG_011403.2:g.99129G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5195G>C MANE Select ENSP00000353393.4:p.Ser1732Thr
ENST00000360256.8:c.5195G>C ENSP00000353393.4:p.Ser1732Thr
NM_000132.3:c.5195G>C NP_000123.1:p.Ser1732Thr
XM_011531126.1:c.5090G>C XP_011529428.1:p.Ser1697Thr
NM_000132.4:c.5195G>C MANE Select NP_000123.1:p.Ser1732Thr
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