Canonical Allele Identifier: CA255076
Community Standard Title: NM_000132.4(F8):c.854T>G (p.Val285Gly)
Gene: F8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154969486A>C , CM000685.2:g.154969486A>C GRCh38
NC_000023.10:g.154197761A>C , CM000685.1:g.154197761A>C GRCh37
NC_000023.9:g.153850955A>C NCBI36
NG_011403.1:g.58238T>G
NG_011403.2:g.58238T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000132.4:c.854T>G MANE Select NP_000123.1:p.Val285Gly
ENST00000360256.9:c.854T>G MANE Select ENSP00000353393.4:p.Val285Gly
NM_000132.3:c.854T>G NP_000123.1:p.Val285Gly
ENST00000360256.8:c.854T>G ENSP00000353393.4:p.Val285Gly
ENST00000647125.1:c.*730T>G ENSP00000496062.1:n.*730T>G
XM_011531126.1:c.749T>G XP_011529428.1:p.Val250Gly
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