Canonical Allele Identifier: CA414897232
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154837685C>A , CM000685.2:g.154837685C>A GRCh38
NC_000023.10:g.154065960C>A , CM000685.1:g.154065960C>A GRCh37
NC_000023.9:g.153719154C>A NCBI36
NG_011403.1:g.190039G>T
NG_033065.1:g.1978G>T
NG_011403.2:g.190039G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.6968G>T MANE Select ENSP00000353393.4:p.Arg2323Leu
ENST00000644698.1:c.701G>T ENSP00000495706.1:p.Arg234Leu
ENST00000330287.10:c.563G>T ENSP00000327895.6:p.Arg188Leu
ENST00000360256.8:c.6968G>T ENSP00000353393.4:p.Arg2323Leu
NM_000132.3:c.6968G>T NP_000123.1:p.Arg2323Leu
NM_019863.2:c.563G>T NP_063916.1:p.Arg188Leu
XM_011531126.1:c.6863G>T XP_011529428.1:p.Arg2288Leu
NM_000132.4:c.6968G>T MANE Select NP_000123.1:p.Arg2323Leu
NM_019863.3:c.563G>T NP_063916.1:p.Arg188Leu