Canonical Allele Identifier: CA2695170123
Gene: F8 HGNC NCBI

Linked Data

gnomAD v4: X-154992929-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154992929C>T , CM000685.2:g.154992929C>T GRCh38
NC_000023.10:g.154221204C>T , CM000685.1:g.154221204C>T GRCh37
NC_000023.9:g.153874398C>T NCBI36
NG_011403.1:g.34795G>A
NG_011403.2:g.34795G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.601+7G>A MANE Select ENSP00000353393.4:n.601+7G>A
ENST00000647125.1:c.*387+7G>A ENSP00000496062.1:n.*387+7G>A
ENST00000360256.8:c.601+7G>A ENSP00000353393.4:n.601+7G>A
ENST00000423959.5:c.496+7G>A ENSP00000409446.1:n.496+7G>A
NM_000132.3:c.601+7G>A NP_000123.1:n.601+7G>A
XM_011531126.1:c.496+7G>A XP_011529428.1:n.496+7G>A
NM_000132.4:c.601+7G>A MANE Select NP_000123.1:n.601+7G>A
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