Canonical Allele Identifier: CA414897457

Gene: F8

Linked Data

• MyVariant Identifiers: chrX:g.154065982G>T (hg19) ; chrX:g.154837707G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154837707G>T , CM000685.2:g.154837707G>T	GRCh38
NC_000023.10:g.154065982G>T , CM000685.1:g.154065982G>T	GRCh37
NC_000023.9:g.153719176G>T	NCBI36
NG_011403.1:g.190017C>A
NG_033065.1:g.1956C>A
NG_011403.2:g.190017C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000360256.9:c.6946C>A MANE Select	ENSP00000353393.4:p.Leu2316Ile
ENST00000644698.1:c.679C>A	ENSP00000495706.1:p.Leu227Ile
ENST00000330287.10:c.541C>A	ENSP00000327895.6:p.Leu181Ile
ENST00000360256.8:c.6946C>A	ENSP00000353393.4:p.Leu2316Ile
NM_000132.3:c.6946C>A	NP_000123.1:p.Leu2316Ile
NM_019863.2:c.541C>A	NP_063916.1:p.Leu181Ile
XM_011531126.1:c.6841C>A	XP_011529428.1:p.Leu2281Ile
NM_000132.4:c.6946C>A MANE Select	NP_000123.1:p.Leu2316Ile
NM_019863.3:c.541C>A	NP_063916.1:p.Leu181Ile