Canonical Allele Identifier: CA414897132
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6980T>A MANE Select ENSP00000353393.4:p.Ile2327Asn
ENST00000644698.1:c.713T>A ENSP00000495706.1:p.Ile238Asn
ENST00000330287.10:c.575T>A ENSP00000327895.6:p.Ile192Asn
ENST00000360256.8:c.6980T>A ENSP00000353393.4:p.Ile2327Asn
NM_000132.3:c.6980T>A NP_000123.1:p.Ile2327Asn
NM_019863.2:c.575T>A NP_063916.1:p.Ile192Asn
XM_011531126.1:c.6875T>A XP_011529428.1:p.Ile2292Asn
NM_000132.4:c.6980T>A MANE Select NP_000123.1:p.Ile2327Asn
NM_019863.3:c.575T>A NP_063916.1:p.Ile192Asn