Canonical Allele Identifier: CA414911169

Gene: F8

Linked Data

• MyVariant Identifiers: chrX:g.154182298T>G (hg19) ; chrX:g.154954023T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154954023T>G , CM000685.2:g.154954023T>G	GRCh38
NC_000023.10:g.154182298T>G , CM000685.1:g.154182298T>G	GRCh37
NC_000023.9:g.153835492T>G	NCBI36
NG_011403.1:g.73701A>C
NG_011403.2:g.73701A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.1772A>C MANE Select	ENSP00000353393.4:p.Asn591Thr
ENST00000647125.1:c.*1648A>C	ENSP00000496062.1:n.*1648A>C
ENST00000360256.8:c.1772A>C	ENSP00000353393.4:p.Asn591Thr
NM_000132.3:c.1772A>C	NP_000123.1:p.Asn591Thr
XM_011531126.1:c.1667A>C	XP_011529428.1:p.Asn556Thr
NM_000132.4:c.1772A>C MANE Select	NP_000123.1:p.Asn591Thr