Canonical Allele Identifier: CA414897129
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs1373734921

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154837673A>G , CM000685.2:g.154837673A>G GRCh38
NC_000023.10:g.154065948A>G , CM000685.1:g.154065948A>G GRCh37
NC_000023.9:g.153719142A>G NCBI36
NG_011403.1:g.190051T>C
NG_033065.1:g.1990T>C
NG_011403.2:g.190051T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6980T>C MANE Select ENSP00000353393.4:p.Ile2327Thr
ENST00000644698.1:c.713T>C ENSP00000495706.1:p.Ile238Thr
ENST00000330287.10:c.575T>C ENSP00000327895.6:p.Ile192Thr
ENST00000360256.8:c.6980T>C ENSP00000353393.4:p.Ile2327Thr
NM_000132.3:c.6980T>C NP_000123.1:p.Ile2327Thr
NM_019863.2:c.575T>C NP_063916.1:p.Ile192Thr
XM_011531126.1:c.6875T>C XP_011529428.1:p.Ile2292Thr
NM_000132.4:c.6980T>C MANE Select NP_000123.1:p.Ile2327Thr
NM_019863.3:c.575T>C NP_063916.1:p.Ile192Thr