Canonical Allele Identifier: CA337337693
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs1049896496
gnomAD v2: X-154197805-T-C
gnomAD v3: X-154969530-T-C
gnomAD v4: X-154969530-T-C
MyVariant Identifiers: chrX:g.154197805T>C (hg19) chrX:g.154969530T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154969530T>C , CM000685.2:g.154969530T>C GRCh38
NC_000023.10:g.154197805T>C , CM000685.1:g.154197805T>C GRCh37
NC_000023.9:g.153850999T>C NCBI36
NG_011403.1:g.58194A>G
NG_011403.2:g.58194A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.810A>G MANE Select ENSP00000353393.4:p.Lys270=
ENST00000647125.1:c.*686A>G ENSP00000496062.1:n.*686A>G
ENST00000360256.8:c.810A>G ENSP00000353393.4:p.Lys270=
NM_000132.3:c.810A>G NP_000123.1:p.Lys270=
XM_011531126.1:c.705A>G XP_011529428.1:p.Lys235=
NM_000132.4:c.810A>G MANE Select NP_000123.1:p.Lys270=
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