Canonical Allele Identifier: CA2466846435
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs2073392189
gnomAD v4: X-154960964-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154960964G>A , CM000685.2:g.154960964G>A GRCh38
NC_000023.10:g.154189239G>A , CM000685.1:g.154189239G>A GRCh37
NC_000023.9:g.153842433G>A NCBI36
NG_011403.1:g.66760C>T
NG_011403.2:g.66760C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1537+111C>T MANE Select ENSP00000353393.4:n.1537+111C>T
ENST00000647125.1:c.*1413+111C>T ENSP00000496062.1:n.*1413+111C>T
ENST00000360256.8:c.1537+111C>T ENSP00000353393.4:n.1537+111C>T
NM_000132.3:c.1537+111C>T NP_000123.1:n.1537+111C>T
XM_011531126.1:c.1432+111C>T XP_011529428.1:n.1432+111C>T
NM_000132.4:c.1537+111C>T MANE Select NP_000123.1:n.1537+111C>T
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