Canonical Allele Identifier: CA414897738

Gene: F8

Linked Data

• COSMIC: COSM3034722 ; COSM3034723
• MyVariant Identifiers: chrX:g.154066010T>A (hg19) ; chrX:g.154837735T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154837735T>A , CM000685.2:g.154837735T>A	GRCh38
NC_000023.10:g.154066010T>A , CM000685.1:g.154066010T>A	GRCh37
NC_000023.9:g.153719204T>A	NCBI36
NG_011403.1:g.189989A>T
NG_033065.1:g.1928A>T
NG_011403.2:g.189989A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6918A>T MANE Select	ENSP00000353393.4:p.Gln2306His
ENST00000644698.1:c.651A>T	ENSP00000495706.1:p.Gln217His
ENST00000330287.10:c.513A>T	ENSP00000327895.6:p.Gln171His
ENST00000360256.8:c.6918A>T	ENSP00000353393.4:p.Gln2306His
NM_000132.3:c.6918A>T	NP_000123.1:p.Gln2306His
NM_019863.2:c.513A>T	NP_063916.1:p.Gln171His
XM_011531126.1:c.6813A>T	XP_011529428.1:p.Gln2271His
NM_000132.4:c.6918A>T MANE Select	NP_000123.1:p.Gln2306His
NM_019863.3:c.513A>T	NP_063916.1:p.Gln171His