Canonical Allele Identifier: CA414911806
Gene: F8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154957048C>A , CM000685.2:g.154957048C>A GRCh38
NC_000023.10:g.154185323C>A , CM000685.1:g.154185323C>A GRCh37
NC_000023.9:g.153838517C>A NCBI36
NG_011403.1:g.70676G>T
NG_011403.2:g.70676G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1661G>T MANE Select ENSP00000353393.4:p.Ser554Ile
ENST00000647125.1:c.*1537G>T ENSP00000496062.1:n.*1537G>T
ENST00000360256.8:c.1661G>T ENSP00000353393.4:p.Ser554Ile
NM_000132.3:c.1661G>T NP_000123.1:p.Ser554Ile
XM_011531126.1:c.1556G>T XP_011529428.1:p.Ser519Ile
NM_000132.4:c.1661G>T MANE Select NP_000123.1:p.Ser554Ile