Canonical Allele Identifier: CA414909247

Gene: F8

Linked Data

• ClinVar Variation Id: 1992368
• ClinVar RCV Id: RCV002795924
• MyVariant Identifiers: chrX:g.154176041A>G (hg19) ; chrX:g.154947766A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154947766A>G , CM000685.2:g.154947766A>G	GRCh38
NC_000023.10:g.154176041A>G , CM000685.1:g.154176041A>G	GRCh37
NC_000023.9:g.153829235A>G	NCBI36
NG_011403.1:g.79958T>C
NG_011403.2:g.79958T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.2045T>C MANE Select	ENSP00000353393.4:p.Val682Ala
ENST00000647125.1:c.*1779+6126T>C	ENSP00000496062.1:n.*1779+6126T>C
ENST00000360256.8:c.2045T>C	ENSP00000353393.4:p.Val682Ala
NM_000132.3:c.2045T>C	NP_000123.1:p.Val682Ala
XM_011531126.1:c.1940T>C	XP_011529428.1:p.Val647Ala
NM_000132.4:c.2045T>C MANE Select	NP_000123.1:p.Val682Ala