Canonical Allele Identifier: CA414912399
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154957171C>G , CM000685.2:g.154957171C>G GRCh38
NC_000023.10:g.154185446C>G , CM000685.1:g.154185446C>G GRCh37
NC_000023.9:g.153838640C>G NCBI36
NG_011403.1:g.70553G>C
NG_011403.2:g.70553G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1538G>C MANE Select ENSP00000353393.4:p.Gly513Ala
ENST00000647125.1:c.*1414G>C ENSP00000496062.1:n.*1414G>C
ENST00000360256.8:c.1538G>C ENSP00000353393.4:p.Gly513Ala
NM_000132.3:c.1538G>C NP_000123.1:p.Gly513Ala
XM_011531126.1:c.1433G>C XP_011529428.1:p.Gly478Ala
NM_000132.4:c.1538G>C MANE Select NP_000123.1:p.Gly513Ala