Canonical Allele Identifier: CA645292826
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs1557281946
gnomAD v2: X-154194273-AG-A
gnomAD v4: X-154965998-AG-A
MyVariant Identifiers: chrX:g.154194274del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154965999del , CM000685.2:g.154965999del GRCh38
NC_000023.10:g.154194274del , CM000685.1:g.154194274del GRCh37
NC_000023.9:g.153847468del NCBI36
NG_011403.1:g.61725del
NG_011403.2:g.61725del

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1414del MANE Select ENSP00000353393.4:p.Leu472PhefsTer10
ENST00000647125.1:c.*1290del ENSP00000496062.1:n.*1290del
ENST00000360256.8:c.1414del ENSP00000353393.4:p.Leu472PhefsTer10
ENST00000483822.2:n.234del
NM_000132.3:c.1414del NP_000123.1:p.Leu472PhefsTer10
XM_011531126.1:c.1309del XP_011529428.1:p.Leu437PhefsTer10
NM_000132.4:c.1414del MANE Select NP_000123.1:p.Leu472PhefsTer10
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