Canonical Allele Identifier: CA2695169154
Gene: F8 HGNC NCBI

Linked Data

gnomAD v4: X-154956910-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154956910A>C , CM000685.2:g.154956910A>C GRCh38
NC_000023.10:g.154185185A>C , CM000685.1:g.154185185A>C GRCh37
NC_000023.9:g.153838379A>C NCBI36
NG_011403.1:g.70814T>G
NG_011403.2:g.70814T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1752+47T>G MANE Select ENSP00000353393.4:n.1752+47T>G
ENST00000647125.1:c.*1628+47T>G ENSP00000496062.1:n.*1628+47T>G
ENST00000360256.8:c.1752+47T>G ENSP00000353393.4:n.1752+47T>G
NM_000132.3:c.1752+47T>G NP_000123.1:n.1752+47T>G
XM_011531126.1:c.1647+47T>G XP_011529428.1:n.1647+47T>G
NM_000132.4:c.1752+47T>G MANE Select NP_000123.1:n.1752+47T>G
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