Canonical Allele Identifier: CA414907549
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154863160C>A , CM000685.2:g.154863160C>A GRCh38
NC_000023.10:g.154091435C>A , CM000685.1:g.154091435C>A GRCh37
NC_000023.9:g.153744629C>A NCBI36
NG_011403.1:g.164564G>T
NG_011403.2:g.164564G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6497G>T MANE Select ENSP00000353393.4:p.Arg2166Leu
ENST00000644698.1:c.230G>T ENSP00000495706.1:p.Arg77Leu
ENST00000330287.10:c.92G>T ENSP00000327895.6:p.Arg31Leu
ENST00000360256.8:c.6497G>T ENSP00000353393.4:p.Arg2166Leu
NM_000132.3:c.6497G>T NP_000123.1:p.Arg2166Leu
NM_019863.2:c.92G>T NP_063916.1:p.Arg31Leu
XM_011531126.1:c.6392G>T XP_011529428.1:p.Arg2131Leu
NM_000132.4:c.6497G>T MANE Select NP_000123.1:p.Arg2166Leu
NM_019863.3:c.92G>T NP_063916.1:p.Arg31Leu