Canonical Allele Identifier: CA255208
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10315
dbSNP Id: rs137852461

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