Canonical Allele Identifier: CA414911618
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154956965C>G , CM000685.2:g.154956965C>G GRCh38
NC_000023.10:g.154185240C>G , CM000685.1:g.154185240C>G GRCh37
NC_000023.9:g.153838434C>G NCBI36
NG_011403.1:g.70759G>C
NG_011403.2:g.70759G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1744G>C MANE Select ENSP00000353393.4:p.Gly582Arg
ENST00000647125.1:c.*1620G>C ENSP00000496062.1:n.*1620G>C
ENST00000360256.8:c.1744G>C ENSP00000353393.4:p.Gly582Arg
NM_000132.3:c.1744G>C NP_000123.1:p.Gly582Arg
XM_011531126.1:c.1639G>C XP_011529428.1:p.Gly547Arg
NM_000132.4:c.1744G>C MANE Select NP_000123.1:p.Gly582Arg