Canonical Allele Identifier: CA414909240
Gene: F8 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.154176038T>G (hg19) chrX:g.154947763T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154947763T>G , CM000685.2:g.154947763T>G GRCh38
NC_000023.10:g.154176038T>G , CM000685.1:g.154176038T>G GRCh37
NC_000023.9:g.153829232T>G NCBI36
NG_011403.1:g.79961A>C
NG_011403.2:g.79961A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.2048A>C MANE Select ENSP00000353393.4:p.Tyr683Ser
ENST00000647125.1:c.*1779+6129A>C ENSP00000496062.1:n.*1779+6129A>C
ENST00000360256.8:c.2048A>C ENSP00000353393.4:p.Tyr683Ser
NM_000132.3:c.2048A>C NP_000123.1:p.Tyr683Ser
XM_011531126.1:c.1943A>C XP_011529428.1:p.Tyr648Ser
NM_000132.4:c.2048A>C MANE Select NP_000123.1:p.Tyr683Ser
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