Canonical Allele Identifier: CA10651770

Gene: F8

Linked Data

• ClinVar Variation Id: 368108
• ClinVar RCV Id: RCV000319813
• dbSNP Id: rs950453657
• gnomAD v3: X-154836422-C-G
• gnomAD v4: X-154836422-C-G
• MyVariant Identifiers: chrX:g.154064697C>G (hg19) ; chrX:g.154836422C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154836422C>G , CM000685.2:g.154836422C>G	GRCh38
NC_000023.10:g.154064697C>G , CM000685.1:g.154064697C>G	GRCh37
NC_000023.9:g.153717891C>G	NCBI36
NG_011403.1:g.191302G>C
NG_033065.1:g.3241G>C
NG_011403.2:g.191302G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.*1175G>C MANE Select	ENSP00000353393.4:n.*1175G>C
ENST00000644698.1:c.*1175G>C	ENSP00000495706.1:n.*1175G>C
ENST00000330287.10:c.*1175G>C	ENSP00000327895.6:n.*1175G>C
ENST00000360256.8:c.*1175G>C	ENSP00000353393.4:n.*1175G>C
NM_000132.3:c.*1175G>C	NP_000123.1:n.*1175G>C
NM_019863.2:c.*1175G>C	NP_063916.1:n.*1175G>C
XM_011531126.1:c.*1175G>C	XP_011529428.1:n.*1175G>C
NM_000132.4:c.*1175G>C MANE Select	NP_000123.1:n.*1175G>C
NM_019863.3:c.*1175G>C	NP_063916.1:n.*1175G>C