Canonical Allele Identifier: CA519357872
Gene: F8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154863135A>G , CM000685.2:g.154863135A>G GRCh38
NC_000023.10:g.154091410A>G , CM000685.1:g.154091410A>G GRCh37
NC_000023.9:g.153744604A>G NCBI36
NG_011403.1:g.164589T>C
NG_011403.2:g.164589T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6522T>C MANE Select ENSP00000353393.4:p.His2174=
ENST00000644698.1:c.255T>C ENSP00000495706.1:p.His85=
ENST00000330287.10:c.117T>C ENSP00000327895.6:p.His39=
ENST00000360256.8:c.6522T>C ENSP00000353393.4:p.His2174=
NM_000132.3:c.6522T>C NP_000123.1:p.His2174=
NM_019863.2:c.117T>C NP_063916.1:p.His39=
XM_011531126.1:c.6417T>C XP_011529428.1:p.His2139=
NM_000132.4:c.6522T>C MANE Select NP_000123.1:p.His2174=
NM_019863.3:c.117T>C NP_063916.1:p.His39=