Canonical Allele Identifier: CA2466856584
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs2073598226
gnomAD v4: X-154993176-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154993176T>G , CM000685.2:g.154993176T>G GRCh38
NC_000023.10:g.154221451T>G , CM000685.1:g.154221451T>G GRCh37
NC_000023.9:g.153874645T>G NCBI36
NG_011403.1:g.34548A>C
NG_011403.2:g.34548A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.389-28A>C MANE Select ENSP00000353393.4:n.389-28A>C
ENST00000647125.1:c.*175-28A>C ENSP00000496062.1:n.*175-28A>C
ENST00000360256.8:c.389-28A>C ENSP00000353393.4:n.389-28A>C
ENST00000423959.5:c.284-28A>C ENSP00000409446.1:n.284-28A>C
ENST00000453950.1:c.371-28A>C ENSP00000389153.1:n.371-28A>C
NM_000132.3:c.389-28A>C NP_000123.1:n.389-28A>C
XM_011531126.1:c.284-28A>C XP_011529428.1:n.284-28A>C
NM_000132.4:c.389-28A>C MANE Select NP_000123.1:n.389-28A>C
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