Canonical Allele Identifier: CA414911255

Gene: F8

Linked Data

• gnomAD v4: X-154954035-G-A
• MyVariant Identifiers: chrX:g.154182310G>A (hg19) ; chrX:g.154954035G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154954035G>A , CM000685.2:g.154954035G>A	GRCh38
NC_000023.10:g.154182310G>A , CM000685.1:g.154182310G>A	GRCh37
NC_000023.9:g.153835504G>A	NCBI36
NG_011403.1:g.73689C>T
NG_011403.2:g.73689C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.1760C>T MANE Select	ENSP00000353393.4:p.Ser587Leu
ENST00000647125.1:c.*1636C>T	ENSP00000496062.1:n.*1636C>T
ENST00000360256.8:c.1760C>T	ENSP00000353393.4:p.Ser587Leu
NM_000132.3:c.1760C>T	NP_000123.1:p.Ser587Leu
XM_011531126.1:c.1655C>T	XP_011529428.1:p.Ser552Leu
NM_000132.4:c.1760C>T MANE Select	NP_000123.1:p.Ser587Leu