Canonical Allele Identifier: CA255027
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10126
dbSNP Id: rs137852360

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154837676C>T , CM000685.2:g.154837676C>T GRCh38
NC_000023.10:g.154065951C>T , CM000685.1:g.154065951C>T GRCh37
NC_000023.9:g.153719145C>T NCBI36
NG_011403.1:g.190048G>A
NG_033065.1:g.1987G>A
NG_011403.2:g.190048G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.6977G>A MANE Select ENSP00000353393.4:p.Arg2326Gln
ENST00000644698.1:c.710G>A ENSP00000495706.1:p.Arg237Gln
ENST00000330287.10:c.572G>A ENSP00000327895.6:p.Arg191Gln
ENST00000360256.8:c.6977G>A ENSP00000353393.4:p.Arg2326Gln
NM_000132.3:c.6977G>A NP_000123.1:p.Arg2326Gln
NM_019863.2:c.572G>A NP_063916.1:p.Arg191Gln
XM_011531126.1:c.6872G>A XP_011529428.1:p.Arg2291Gln
NM_000132.4:c.6977G>A MANE Select NP_000123.1:p.Arg2326Gln
NM_019863.3:c.572G>A NP_063916.1:p.Arg191Gln