Canonical Allele Identifier: CA10568031
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs782385128
ExAC: X:154156875 C / A
gnomAD v2: X-154156875-C-A
gnomAD v4: X-154928600-C-A
MyVariant Identifiers: chrX:g.154156875C>A (hg19) chrX:g.154928600C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928600C>A , CM000685.2:g.154928600C>A GRCh38
NC_000023.10:g.154156875C>A , CM000685.1:g.154156875C>A GRCh37
NC_000023.9:g.153810069C>A NCBI36
NG_011403.1:g.99124G>T
NG_011403.2:g.99124G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5190G>T MANE Select ENSP00000353393.4:p.Met1730Ile
ENST00000360256.8:c.5190G>T ENSP00000353393.4:p.Met1730Ile
NM_000132.3:c.5190G>T NP_000123.1:p.Met1730Ile
XM_011531126.1:c.5085G>T XP_011529428.1:p.Met1695Ile
NM_000132.4:c.5190G>T MANE Select NP_000123.1:p.Met1730Ile
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