Canonical Allele Identifier: CA414916700
Gene: F8 HGNC NCBI

Linked Data

gnomAD v4: X-154966574-C-G
MyVariant Identifiers: chrX:g.154194849C>G (hg19) chrX:g.154966574C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154966574C>G , CM000685.2:g.154966574C>G GRCh38
NC_000023.10:g.154194849C>G , CM000685.1:g.154194849C>G GRCh37
NC_000023.9:g.153848043C>G NCBI36
NG_011403.1:g.61150G>C
NG_011403.2:g.61150G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1123G>C MANE Select ENSP00000353393.4:p.Asp375His
ENST00000647125.1:c.*999G>C ENSP00000496062.1:n.*999G>C
ENST00000360256.8:c.1123G>C ENSP00000353393.4:p.Asp375His
NM_000132.3:c.1123G>C NP_000123.1:p.Asp375His
XM_011531126.1:c.1018G>C XP_011529428.1:p.Asp340His
NM_000132.4:c.1123G>C MANE Select NP_000123.1:p.Asp375His
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