Canonical Allele Identifier: CA414897449
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154837706A>T , CM000685.2:g.154837706A>T GRCh38
NC_000023.10:g.154065981A>T , CM000685.1:g.154065981A>T GRCh37
NC_000023.9:g.153719175A>T NCBI36
NG_011403.1:g.190018T>A
NG_033065.1:g.1957T>A
NG_011403.2:g.190018T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.6947T>A MANE Select ENSP00000353393.4:p.Leu2316Gln
ENST00000644698.1:c.680T>A ENSP00000495706.1:p.Leu227Gln
ENST00000330287.10:c.542T>A ENSP00000327895.6:p.Leu181Gln
ENST00000360256.8:c.6947T>A ENSP00000353393.4:p.Leu2316Gln
NM_000132.3:c.6947T>A NP_000123.1:p.Leu2316Gln
NM_019863.2:c.542T>A NP_063916.1:p.Leu181Gln
XM_011531126.1:c.6842T>A XP_011529428.1:p.Leu2281Gln
NM_000132.4:c.6947T>A MANE Select NP_000123.1:p.Leu2316Gln
NM_019863.3:c.542T>A NP_063916.1:p.Leu181Gln