Canonical Allele Identifier: CA414919593
Gene: F8 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.154221318G>C (hg19) chrX:g.154993043G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154993043G>C , CM000685.2:g.154993043G>C GRCh38
NC_000023.10:g.154221318G>C , CM000685.1:g.154221318G>C GRCh37
NC_000023.9:g.153874512G>C NCBI36
NG_011403.1:g.34681C>G
NG_011403.2:g.34681C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.494C>G MANE Select ENSP00000353393.4:p.Pro165Arg
ENST00000647125.1:c.*280C>G ENSP00000496062.1:n.*280C>G
ENST00000360256.8:c.494C>G ENSP00000353393.4:p.Pro165Arg
ENST00000423959.5:c.389C>G ENSP00000409446.1:p.Pro130Arg
ENST00000453950.1:c.476C>G ENSP00000389153.1:p.Pro159Arg
NM_000132.3:c.494C>G NP_000123.1:p.Pro165Arg
XM_011531126.1:c.389C>G XP_011529428.1:p.Pro130Arg
NM_000132.4:c.494C>G MANE Select NP_000123.1:p.Pro165Arg
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