Canonical Allele Identifier: CA10568403

Gene: F8

Linked Data

• dbSNP Id: rs375939938
• ExAC: X:154182330 T / C
• gnomAD v2: X-154182330-T-C
• MyVariant Identifiers: chrX:g.154182330T>C (hg19) ; chrX:g.154954055T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154954055T>C , CM000685.2:g.154954055T>C	GRCh38
NC_000023.10:g.154182330T>C , CM000685.1:g.154182330T>C	GRCh37
NC_000023.9:g.153835524T>C	NCBI36
NG_011403.1:g.73669A>G
NG_011403.2:g.73669A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.1753-13A>G MANE Select	ENSP00000353393.4:n.1753-13A>G
ENST00000647125.1:c.*1629-13A>G	ENSP00000496062.1:n.*1629-13A>G
ENST00000360256.8:c.1753-13A>G	ENSP00000353393.4:n.1753-13A>G
NM_000132.3:c.1753-13A>G	NP_000123.1:n.1753-13A>G
XM_011531126.1:c.1648-13A>G	XP_011529428.1:n.1648-13A>G
NM_000132.4:c.1753-13A>G MANE Select	NP_000123.1:n.1753-13A>G