Canonical Allele Identifier: CA10567754

Gene: F8

Linked Data

• dbSNP Id: rs782717799
• ExAC: X:154088772 A / T
• gnomAD v2: X-154088772-A-T
• gnomAD v4: X-154860497-A-T
• MyVariant Identifiers: chrX:g.154088772A>T (hg19) ; chrX:g.154860497A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154860497A>T , CM000685.2:g.154860497A>T	GRCh38
NC_000023.10:g.154088772A>T , CM000685.1:g.154088772A>T	GRCh37
NC_000023.9:g.153741966A>T	NCBI36
NG_011403.1:g.167227T>A
NG_011403.2:g.167227T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6835T>A MANE Select	ENSP00000353393.4:p.Phe2279Ile
ENST00000644698.1:c.568T>A	ENSP00000495706.1:p.Phe190Ile
ENST00000330287.10:c.430T>A	ENSP00000327895.6:p.Phe144Ile
ENST00000360256.8:c.6835T>A	ENSP00000353393.4:p.Phe2279Ile
NM_000132.3:c.6835T>A	NP_000123.1:p.Phe2279Ile
NM_019863.2:c.430T>A	NP_063916.1:p.Phe144Ile
XM_011531126.1:c.6730T>A	XP_011529428.1:p.Phe2244Ile
NM_000132.4:c.6835T>A MANE Select	NP_000123.1:p.Phe2279Ile
NM_019863.3:c.430T>A	NP_063916.1:p.Phe144Ile