Canonical Allele Identifier: CA414896927
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154837652T>A , CM000685.2:g.154837652T>A GRCh38
NC_000023.10:g.154065927T>A , CM000685.1:g.154065927T>A GRCh37
NC_000023.9:g.153719121T>A NCBI36
NG_011403.1:g.190072A>T
NG_033065.1:g.2011A>T
NG_011403.2:g.190072A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.7001A>T MANE Select ENSP00000353393.4:p.His2334Leu
ENST00000644698.1:c.734A>T ENSP00000495706.1:p.His245Leu
ENST00000330287.10:c.596A>T ENSP00000327895.6:p.His199Leu
ENST00000360256.8:c.7001A>T ENSP00000353393.4:p.His2334Leu
NM_000132.3:c.7001A>T NP_000123.1:p.His2334Leu
NM_019863.2:c.596A>T NP_063916.1:p.His199Leu
XM_011531126.1:c.6896A>T XP_011529428.1:p.His2299Leu
NM_000132.4:c.7001A>T MANE Select NP_000123.1:p.His2334Leu
NM_019863.3:c.596A>T NP_063916.1:p.His199Leu