Canonical Allele Identifier: CA10568035
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs782740320
ExAC: X:154156929 C / T
gnomAD v2: X-154156929-C-T
gnomAD v4: X-154928654-C-T
MyVariant Identifiers: chrX:g.154156929C>T (hg19) chrX:g.154928654C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928654C>T , CM000685.2:g.154928654C>T GRCh38
NC_000023.10:g.154156929C>T , CM000685.1:g.154156929C>T GRCh37
NC_000023.9:g.153810123C>T NCBI36
NG_011403.1:g.99070G>A
NG_011403.2:g.99070G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5136G>A MANE Select ENSP00000353393.4:p.Lys1712=
ENST00000360256.8:c.5136G>A ENSP00000353393.4:p.Lys1712=
NM_000132.3:c.5136G>A NP_000123.1:p.Lys1712=
XM_011531126.1:c.5031G>A XP_011529428.1:p.Lys1677=
NM_000132.4:c.5136G>A MANE Select NP_000123.1:p.Lys1712=
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