Canonical Allele Identifier: CA414907323
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154863137G>C , CM000685.2:g.154863137G>C GRCh38
NC_000023.10:g.154091412G>C , CM000685.1:g.154091412G>C GRCh37
NC_000023.9:g.153744606G>C NCBI36
NG_011403.1:g.164587C>G
NG_011403.2:g.164587C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6520C>G MANE Select ENSP00000353393.4:p.His2174Asp
ENST00000644698.1:c.253C>G ENSP00000495706.1:p.His85Asp
ENST00000330287.10:c.115C>G ENSP00000327895.6:p.His39Asp
ENST00000360256.8:c.6520C>G ENSP00000353393.4:p.His2174Asp
NM_000132.3:c.6520C>G NP_000123.1:p.His2174Asp
NM_019863.2:c.115C>G NP_063916.1:p.His39Asp
XM_011531126.1:c.6415C>G XP_011529428.1:p.His2139Asp
NM_000132.4:c.6520C>G MANE Select NP_000123.1:p.His2174Asp
NM_019863.3:c.115C>G NP_063916.1:p.His39Asp