Canonical Allele Identifier: CA10567867
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs782030368
ExAC: X:154124444 A / G
gnomAD v2: X-154124444-A-G
gnomAD v4: X-154896169-A-G
MyVariant Identifiers: chrX:g.154124444A>G (hg19) chrX:g.154896169A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154896169A>G , CM000685.2:g.154896169A>G GRCh38
NC_000023.10:g.154124444A>G , CM000685.1:g.154124444A>G GRCh37
NC_000023.9:g.153777638A>G NCBI36
NG_011403.1:g.131555T>C
NG_011403.2:g.131555T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6337T>C MANE Select ENSP00000353393.4:p.Ser2113Pro
ENST00000360256.8:c.6337T>C ENSP00000353393.4:p.Ser2113Pro
NM_000132.3:c.6337T>C NP_000123.1:p.Ser2113Pro
XM_011531126.1:c.6232T>C XP_011529428.1:p.Ser2078Pro
NM_000132.4:c.6337T>C MANE Select NP_000123.1:p.Ser2113Pro
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