Canonical Allele Identifier: CA10654283

Gene: F8

Linked Data

• ClinVar Variation Id: 368106
• ClinVar RCV Id: RCV000368833
• dbSNP Id: rs186338743
• gnomAD v2: X-154064456-C-A
• gnomAD v3: X-154836181-C-A
• gnomAD v4: X-154836181-C-A
• MyVariant Identifiers: chrX:g.154064456C>A (hg19) ; chrX:g.154836181C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154836181C>A , CM000685.2:g.154836181C>A	GRCh38
NC_000023.10:g.154064456C>A , CM000685.1:g.154064456C>A	GRCh37
NC_000023.9:g.153717650C>A	NCBI36
NG_011403.1:g.191543G>T
NG_033065.1:g.3482G>T
NG_011403.2:g.191543G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.*1416G>T MANE Select	ENSP00000353393.4:n.*1416G>T
ENST00000644698.1:c.*1416G>T	ENSP00000495706.1:n.*1416G>T
ENST00000330287.10:c.*1416G>T	ENSP00000327895.6:n.*1416G>T
ENST00000360256.8:c.*1416G>T	ENSP00000353393.4:n.*1416G>T
NM_000132.3:c.*1416G>T	NP_000123.1:n.*1416G>T
NM_019863.2:c.*1416G>T	NP_063916.1:n.*1416G>T
XM_011531126.1:c.*1416G>T	XP_011529428.1:n.*1416G>T
NM_000132.4:c.*1416G>T MANE Select	NP_000123.1:n.*1416G>T
NM_019863.3:c.*1416G>T	NP_063916.1:n.*1416G>T