Canonical Allele Identifier: CA414901669
Gene: F8 HGNC NCBI

Linked Data

gnomAD v4: X-154931340-G-A
MyVariant Identifiers: chrX:g.154159615G>A (hg19) chrX:g.154931340G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154931340G>A , CM000685.2:g.154931340G>A GRCh38
NC_000023.10:g.154159615G>A , CM000685.1:g.154159615G>A GRCh37
NC_000023.9:g.153812809G>A NCBI36
NG_011403.1:g.96384C>T
NG_011403.2:g.96384C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.2450C>T MANE Select ENSP00000353393.4:p.Pro817Leu
ENST00000647125.1:c.*2116C>T ENSP00000496062.1:n.*2116C>T
ENST00000360256.8:c.2450C>T ENSP00000353393.4:p.Pro817Leu
NM_000132.3:c.2450C>T NP_000123.1:p.Pro817Leu
XM_011531126.1:c.2345C>T XP_011529428.1:p.Pro782Leu
NM_000132.4:c.2450C>T MANE Select NP_000123.1:p.Pro817Leu
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