Canonical Allele Identifier: CA10653866
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 368113
ClinVar RCV Id: RCV000283376
dbSNP Id: rs782435894
gnomAD v2: X-154065794-G-A
gnomAD v3: X-154837519-G-A
gnomAD v4: X-154837519-G-A
MyVariant Identifiers: chrX:g.154065794G>A (hg19) chrX:g.154837519G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154837519G>A , CM000685.2:g.154837519G>A GRCh38
NC_000023.10:g.154065794G>A , CM000685.1:g.154065794G>A GRCh37
NC_000023.9:g.153718988G>A NCBI36
NG_011403.1:g.190205C>T
NG_033065.1:g.2144C>T
NG_011403.2:g.190205C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.*78C>T MANE Select ENSP00000353393.4:n.*78C>T
ENST00000644698.1:c.*78C>T ENSP00000495706.1:n.*78C>T
ENST00000330287.10:c.*78C>T ENSP00000327895.6:n.*78C>T
ENST00000360256.8:c.*78C>T ENSP00000353393.4:n.*78C>T
NM_000132.3:c.*78C>T NP_000123.1:n.*78C>T
NM_019863.2:c.*78C>T NP_063916.1:n.*78C>T
XM_011531126.1:c.*78C>T XP_011529428.1:n.*78C>T
NM_000132.4:c.*78C>T MANE Select NP_000123.1:n.*78C>T
NM_019863.3:c.*78C>T NP_063916.1:n.*78C>T
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