Canonical Allele Identifier: CA337334263
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs782468165
gnomAD v2: X-154189421-C-T
gnomAD v4: X-154961146-C-T
MyVariant Identifiers: chrX:g.154189421C>T (hg19) chrX:g.154961146C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154961146C>T , CM000685.2:g.154961146C>T GRCh38
NC_000023.10:g.154189421C>T , CM000685.1:g.154189421C>T GRCh37
NC_000023.9:g.153842615C>T NCBI36
NG_011403.1:g.66578G>A
NG_011403.2:g.66578G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1466G>A MANE Select ENSP00000353393.4:p.Ser489Asn
ENST00000647125.1:c.*1342G>A ENSP00000496062.1:n.*1342G>A
ENST00000360256.8:c.1466G>A ENSP00000353393.4:p.Ser489Asn
NM_000132.3:c.1466G>A NP_000123.1:p.Ser489Asn
XM_011531126.1:c.1361G>A XP_011529428.1:p.Ser454Asn
NM_000132.4:c.1466G>A MANE Select NP_000123.1:p.Ser489Asn
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