Canonical Allele Identifier: CA1139667894

Gene: F8

Linked Data

• ClinVar Variation Id: 914335
• ClinVar RCV Id: RCV001168449
• dbSNP Id: rs2072481964
• gnomAD v4: X-154837421-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154837421C>T , CM000685.2:g.154837421C>T	GRCh38
NC_000023.10:g.154065696C>T , CM000685.1:g.154065696C>T	GRCh37
NC_000023.9:g.153718890C>T	NCBI36
NG_011403.1:g.190303G>A
NG_033065.1:g.2242G>A
NG_011403.2:g.190303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.*176G>A MANE Select	ENSP00000353393.4:n.*176G>A
ENST00000644698.1:c.*176G>A	ENSP00000495706.1:n.*176G>A
ENST00000330287.10:c.*176G>A	ENSP00000327895.6:n.*176G>A
ENST00000360256.8:c.*176G>A	ENSP00000353393.4:n.*176G>A
NM_000132.3:c.*176G>A	NP_000123.1:n.*176G>A
NM_019863.2:c.*176G>A	NP_063916.1:n.*176G>A
XM_011531126.1:c.*176G>A	XP_011529428.1:n.*176G>A
NM_000132.4:c.*176G>A MANE Select	NP_000123.1:n.*176G>A
NM_019863.3:c.*176G>A	NP_063916.1:n.*176G>A