Canonical Allele Identifier: CA414912875
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs1557281568
gnomAD v2: X-154189428-G-C
gnomAD v4: X-154961153-G-C
MyVariant Identifiers: chrX:g.154189428G>C (hg19) chrX:g.154961153G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154961153G>C , CM000685.2:g.154961153G>C GRCh38
NC_000023.10:g.154189428G>C , CM000685.1:g.154189428G>C GRCh37
NC_000023.9:g.153842622G>C NCBI36
NG_011403.1:g.66571C>G
NG_011403.2:g.66571C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1459C>G MANE Select ENSP00000353393.4:p.Gln487Glu
ENST00000647125.1:c.*1335C>G ENSP00000496062.1:n.*1335C>G
ENST00000360256.8:c.1459C>G ENSP00000353393.4:p.Gln487Glu
NM_000132.3:c.1459C>G NP_000123.1:p.Gln487Glu
XM_011531126.1:c.1354C>G XP_011529428.1:p.Gln452Glu
NM_000132.4:c.1459C>G MANE Select NP_000123.1:p.Gln487Glu
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