Canonical Allele Identifier: CA255208

Gene: F8

Linked Data

• ClinVar Variation Id: 10315
• ClinVar RCV Id: RCV000011028 ; RCV000851846 ; RCV003147281
• dbSNP Id: rs137852461
• ExAC: X:154091426 C / T
• gnomAD v2: X-154091426-C-T
• gnomAD v4: X-154863151-C-T
• MyVariant Identifiers: chrX:g.154091426C>T (hg19) ; chrX:g.154863151C>T (hg38)
• PubMed: PMID:1301932 ; PMID:1301960 ; PMID:1671991 ; PMID:1908096 ; PMID:6438527 ; PMID:7728145

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154863151C>T , CM000685.2:g.154863151C>T	GRCh38
NC_000023.10:g.154091426C>T , CM000685.1:g.154091426C>T	GRCh37
NC_000023.9:g.153744620C>T	NCBI36
NG_011403.1:g.164573G>A
NG_011403.2:g.164573G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6506G>A MANE Select	ENSP00000353393.4:p.Arg2169His
ENST00000644698.1:c.239G>A	ENSP00000495706.1:p.Arg80His
ENST00000330287.10:c.101G>A	ENSP00000327895.6:p.Arg34His
ENST00000360256.8:c.6506G>A	ENSP00000353393.4:p.Arg2169His
NM_000132.3:c.6506G>A	NP_000123.1:p.Arg2169His
NM_019863.2:c.101G>A	NP_063916.1:p.Arg34His
XM_011531126.1:c.6401G>A	XP_011529428.1:p.Arg2134His
NM_000132.4:c.6506G>A MANE Select	NP_000123.1:p.Arg2169His
NM_019863.3:c.101G>A	NP_063916.1:p.Arg34His