Canonical Allele Identifier: CA414919595
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154993044G>C , CM000685.2:g.154993044G>C GRCh38
NC_000023.10:g.154221319G>C , CM000685.1:g.154221319G>C GRCh37
NC_000023.9:g.153874513G>C NCBI36
NG_011403.1:g.34680C>G
NG_011403.2:g.34680C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.493C>G MANE Select ENSP00000353393.4:p.Pro165Ala
ENST00000647125.1:c.*279C>G ENSP00000496062.1:n.*279C>G
ENST00000360256.8:c.493C>G ENSP00000353393.4:p.Pro165Ala
ENST00000423959.5:c.388C>G ENSP00000409446.1:p.Pro130Ala
ENST00000453950.1:c.475C>G ENSP00000389153.1:p.Pro159Ala
NM_000132.3:c.493C>G NP_000123.1:p.Pro165Ala
XM_011531126.1:c.388C>G XP_011529428.1:p.Pro130Ala
NM_000132.4:c.493C>G MANE Select NP_000123.1:p.Pro165Ala