Canonical Allele Identifier: CA414920042

Gene: F8

Linked Data

• MyVariant Identifiers: chrX:g.154225329C>A (hg19) ; chrX:g.154997054C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154997054C>A , CM000685.2:g.154997054C>A	GRCh38
NC_000023.10:g.154225329C>A , CM000685.1:g.154225329C>A	GRCh37
NC_000023.9:g.153878523C>A	NCBI36
NG_011403.1:g.30670G>T
NG_011403.2:g.30670G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.307G>T MANE Select	ENSP00000353393.4:p.Val103Leu
ENST00000647125.1:c.*93G>T	ENSP00000496062.1:n.*93G>T
ENST00000360256.8:c.307G>T	ENSP00000353393.4:p.Val103Leu
ENST00000423959.5:c.202G>T	ENSP00000409446.1:p.Val68Leu
ENST00000453950.1:c.289G>T	ENSP00000389153.1:p.Val97Leu
NM_000132.3:c.307G>T	NP_000123.1:p.Val103Leu
XM_011531126.1:c.202G>T	XP_011529428.1:p.Val68Leu
NM_000132.4:c.307G>T MANE Select	NP_000123.1:p.Val103Leu