Canonical Allele Identifier: CA337333012
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs1034849525
gnomAD v2: X-154185407-T-A
gnomAD v3: X-154957132-T-A
gnomAD v4: X-154957132-T-A
MyVariant Identifiers: chrX:g.154185407T>A (hg19) chrX:g.154957132T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154957132T>A , CM000685.2:g.154957132T>A GRCh38
NC_000023.10:g.154185407T>A , CM000685.1:g.154185407T>A GRCh37
NC_000023.9:g.153838601T>A NCBI36
NG_011403.1:g.70592A>T
NG_011403.2:g.70592A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1577A>T MANE Select ENSP00000353393.4:p.Glu526Val
ENST00000647125.1:c.*1453A>T ENSP00000496062.1:n.*1453A>T
ENST00000360256.8:c.1577A>T ENSP00000353393.4:p.Glu526Val
NM_000132.3:c.1577A>T NP_000123.1:p.Glu526Val
XM_011531126.1:c.1472A>T XP_011529428.1:p.Glu491Val
NM_000132.4:c.1577A>T MANE Select NP_000123.1:p.Glu526Val
Search 100 bp 5'
Search 100 bp 3'