Canonical Allele Identifier: CA414896890
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154837648C>G , CM000685.2:g.154837648C>G GRCh38
NC_000023.10:g.154065923C>G , CM000685.1:g.154065923C>G GRCh37
NC_000023.9:g.153719117C>G NCBI36
NG_011403.1:g.190076G>C
NG_033065.1:g.2015G>C
NG_011403.2:g.190076G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.7005G>C MANE Select ENSP00000353393.4:p.Gln2335His
ENST00000644698.1:c.738G>C ENSP00000495706.1:p.Gln246His
ENST00000330287.10:c.600G>C ENSP00000327895.6:p.Gln200His
ENST00000360256.8:c.7005G>C ENSP00000353393.4:p.Gln2335His
NM_000132.3:c.7005G>C NP_000123.1:p.Gln2335His
NM_019863.2:c.600G>C NP_063916.1:p.Gln200His
XM_011531126.1:c.6900G>C XP_011529428.1:p.Gln2300His
NM_000132.4:c.7005G>C MANE Select NP_000123.1:p.Gln2335His
NM_019863.3:c.600G>C NP_063916.1:p.Gln200His