Canonical Allele Identifier: CA10568404

Gene: F8

Linked Data

• dbSNP Id: rs782136018
• ExAC: X:154182346 A / G
• gnomAD v2: X-154182346-A-G
• gnomAD v3: X-154954071-A-G
• gnomAD v4: X-154954071-A-G
• MyVariant Identifiers: chrX:g.154182346A>G (hg19) ; chrX:g.154954071A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154954071A>G , CM000685.2:g.154954071A>G	GRCh38
NC_000023.10:g.154182346A>G , CM000685.1:g.154182346A>G	GRCh37
NC_000023.9:g.153835540A>G	NCBI36
NG_011403.1:g.73653T>C
NG_011403.2:g.73653T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.1753-29T>C MANE Select	ENSP00000353393.4:n.1753-29T>C
ENST00000647125.1:c.*1629-29T>C	ENSP00000496062.1:n.*1629-29T>C
ENST00000360256.8:c.1753-29T>C	ENSP00000353393.4:n.1753-29T>C
NM_000132.3:c.1753-29T>C	NP_000123.1:n.1753-29T>C
XM_011531126.1:c.1648-29T>C	XP_011529428.1:n.1648-29T>C
NM_000132.4:c.1753-29T>C MANE Select	NP_000123.1:n.1753-29T>C