Canonical Allele Identifier: CA10568032

Gene: F8

Linked Data

• dbSNP Id: rs782783520
• ExAC: X:154156877 T / A
• gnomAD v2: X-154156877-T-A
• gnomAD v3: X-154928602-T-A
• gnomAD v4: X-154928602-T-A
• MyVariant Identifiers: chrX:g.154156877T>A (hg19) ; chrX:g.154928602T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154928602T>A , CM000685.2:g.154928602T>A	GRCh38
NC_000023.10:g.154156877T>A , CM000685.1:g.154156877T>A	GRCh37
NC_000023.9:g.153810071T>A	NCBI36
NG_011403.1:g.99122A>T
NG_011403.2:g.99122A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.5188A>T MANE Select	ENSP00000353393.4:p.Met1730Leu
ENST00000360256.8:c.5188A>T	ENSP00000353393.4:p.Met1730Leu
NM_000132.3:c.5188A>T	NP_000123.1:p.Met1730Leu
XM_011531126.1:c.5083A>T	XP_011529428.1:p.Met1695Leu
NM_000132.4:c.5188A>T MANE Select	NP_000123.1:p.Met1730Leu