Canonical Allele Identifier: CA337315893
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 811198
ClinVar RCV Id: RCV001000907
dbSNP Id: rs781870586
MyVariant Identifiers: chrX:g.154124435A>G (hg19) chrX:g.154896160A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154896160A>G , CM000685.2:g.154896160A>G GRCh38
NC_000023.10:g.154124435A>G , CM000685.1:g.154124435A>G GRCh37
NC_000023.9:g.153777629A>G NCBI36
NG_011403.1:g.131564T>C
NG_011403.2:g.131564T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.6346T>C MANE Select ENSP00000353393.4:p.Tyr2116His
ENST00000360256.8:c.6346T>C ENSP00000353393.4:p.Tyr2116His
NM_000132.3:c.6346T>C NP_000123.1:p.Tyr2116His
XM_011531126.1:c.6241T>C XP_011529428.1:p.Tyr2081His
NM_000132.4:c.6346T>C MANE Select NP_000123.1:p.Tyr2116His
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