Canonical Allele Identifier: CA10567800

Gene: F8

Linked Data

• ClinVar Variation Id: 2637834
• ClinVar RCV Id: RCV003405132
• dbSNP Id: rs782641941
• ExAC: X:154091427 G / A
• gnomAD v2: X-154091427-G-A
• gnomAD v4: X-154863152-G-A
• MyVariant Identifiers: chrX:g.154091427G>A (hg19) ; chrX:g.154863152G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154863152G>A , CM000685.2:g.154863152G>A	GRCh38
NC_000023.10:g.154091427G>A , CM000685.1:g.154091427G>A	GRCh37
NC_000023.9:g.153744621G>A	NCBI36
NG_011403.1:g.164572C>T
NG_011403.2:g.164572C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6505C>T MANE Select	ENSP00000353393.4:p.Arg2169Cys
ENST00000644698.1:c.238C>T	ENSP00000495706.1:p.Arg80Cys
ENST00000330287.10:c.100C>T	ENSP00000327895.6:p.Arg34Cys
ENST00000360256.8:c.6505C>T	ENSP00000353393.4:p.Arg2169Cys
NM_000132.3:c.6505C>T	NP_000123.1:p.Arg2169Cys
NM_019863.2:c.100C>T	NP_063916.1:p.Arg34Cys
XM_011531126.1:c.6400C>T	XP_011529428.1:p.Arg2134Cys
NM_000132.4:c.6505C>T MANE Select	NP_000123.1:p.Arg2169Cys
NM_019863.3:c.100C>T	NP_063916.1:p.Arg34Cys