Canonical Allele Identifier: CA414920747
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.155022551A>G , CM000685.2:g.155022551A>G GRCh38
NC_000023.10:g.154250826A>G , CM000685.1:g.154250826A>G GRCh37
NC_000023.9:g.153904020A>G NCBI36
NG_011403.1:g.5173T>C
NG_011403.2:g.5173T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.2T>C MANE Select ENSP00000353393.4:p.Met1Thr
ENST00000647125.1:c.2T>C ENSP00000496062.1:p.Met1Thr
ENST00000360256.8:c.2T>C ENSP00000353393.4:p.Met1Thr
ENST00000423959.5:c.38+4229T>C ENSP00000409446.1:n.38+4229T>C
ENST00000453950.1:c.39-55T>C ENSP00000389153.1:n.39-55T>C
NM_000132.3:c.2T>C NP_000123.1:p.Met1Thr
XM_011531126.1:c.38+4229T>C XP_011529428.1:n.38+4229T>C
NM_000132.4:c.2T>C MANE Select NP_000123.1:p.Met1Thr