Canonical Allele Identifier: CA255209
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10316
ClinVar RCV Id: RCV000011029
dbSNP Id: rs137852462

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154863142G>T , CM000685.2:g.154863142G>T GRCh38
NC_000023.10:g.154091417G>T , CM000685.1:g.154091417G>T GRCh37
NC_000023.9:g.153744611G>T NCBI36
NG_011403.1:g.164582C>A
NG_011403.2:g.164582C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6515C>A MANE Select ENSP00000353393.4:p.Pro2172Gln
ENST00000644698.1:c.248C>A ENSP00000495706.1:p.Pro83Gln
ENST00000330287.10:c.110C>A ENSP00000327895.6:p.Pro37Gln
ENST00000360256.8:c.6515C>A ENSP00000353393.4:p.Pro2172Gln
NM_000132.3:c.6515C>A NP_000123.1:p.Pro2172Gln
NM_019863.2:c.110C>A NP_063916.1:p.Pro37Gln
XM_011531126.1:c.6410C>A XP_011529428.1:p.Pro2137Gln
NM_000132.4:c.6515C>A MANE Select NP_000123.1:p.Pro2172Gln
NM_019863.3:c.110C>A NP_063916.1:p.Pro37Gln