Canonical Allele Identifier: CA414920437

Gene: F8

Linked Data

• dbSNP Id: rs368563092
• gnomAD v2: X-154250689-C-A
• MyVariant Identifiers: chrX:g.154250689C>A (hg19) ; chrX:g.155022414C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155022414C>A , CM000685.2:g.155022414C>A	GRCh38
NC_000023.10:g.154250689C>A , CM000685.1:g.154250689C>A	GRCh37
NC_000023.9:g.153903883C>A	NCBI36
NG_011403.1:g.5310G>T
NG_011403.2:g.5310G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.139G>T MANE Select	ENSP00000353393.4:p.Ala47Ser
ENST00000647125.1:c.121+18G>T	ENSP00000496062.1:n.121+18G>T
ENST00000360256.8:c.139G>T	ENSP00000353393.4:p.Ala47Ser
ENST00000423959.5:c.38+4366G>T	ENSP00000409446.1:n.38+4366G>T
ENST00000453950.1:c.121G>T	ENSP00000389153.1:p.Ala41Ser
NM_000132.3:c.139G>T	NP_000123.1:p.Ala47Ser
XM_011531126.1:c.38+4366G>T	XP_011529428.1:n.38+4366G>T
NM_000132.4:c.139G>T MANE Select	NP_000123.1:p.Ala47Ser