Canonical Allele Identifier: CA414912564
Gene: F8 HGNC NCBI

Linked Data

gnomAD v4: X-154961076-T-G
MyVariant Identifiers: chrX:g.154189351T>G (hg19) chrX:g.154961076T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154961076T>G , CM000685.2:g.154961076T>G GRCh38
NC_000023.10:g.154189351T>G , CM000685.1:g.154189351T>G GRCh37
NC_000023.9:g.153842545T>G NCBI36
NG_011403.1:g.66648A>C
NG_011403.2:g.66648A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1536A>C MANE Select ENSP00000353393.4:p.Lys512Asn
ENST00000647125.1:c.*1412A>C ENSP00000496062.1:n.*1412A>C
ENST00000360256.8:c.1536A>C ENSP00000353393.4:p.Lys512Asn
NM_000132.3:c.1536A>C NP_000123.1:p.Lys512Asn
XM_011531126.1:c.1431A>C XP_011529428.1:p.Lys477Asn
NM_000132.4:c.1536A>C MANE Select NP_000123.1:p.Lys512Asn
Search 100 bp 5'
Search 100 bp 3'