Canonical Allele Identifier: CA411390187
Community Standard Title: NM_000631.5(NCF4):c.759-40C>T
Gene: NCF4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36875989C>T , CM000684.2:g.36875989C>T GRCh38
NC_000022.10:g.37272031C>T , CM000684.1:g.37272031C>T GRCh37
NC_000022.9:g.35601977C>T NCBI36
NG_023400.1:g.20002C>T , LRG_159:g.20002C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000631.5:c.759-40C>T MANE Select NP_000622.2:n.759-40C>T
ENST00000248899.11:c.759-40C>T MANE Select ENSP00000248899.6:n.759-40C>T
NM_000631.4:c.759-40C>T NP_000622.2:n.759-40C>T
NM_013416.3:c.964C>T , LRG_159t1:c.964C>T NP_038202.2:p.Gln322Ter
NM_013416.4:c.964C>T NP_038202.2:p.Gln322Ter
ENST00000248899.10:c.759-40C>T ENSP00000248899.6:n.759-40C>T
ENST00000397147.6:c.964C>T ENSP00000380334.4:p.Gln322Ter
ENST00000397147.7:c.964C>T ENSP00000380334.4:p.Gln322Ter
ENST00000415063.2:n.554C>T
ENST00000650698.1:c.450-40C>T ENSP00000498381.1:n.450-40C>T
ENST00000650827.1:c.450-40C>T ENSP00000498212.1:n.450-40C>T
ENST00000651053.1:n.1068-40C>T
XM_011530198.1:c.933-40C>T XP_011528500.1:n.933-40C>T
XM_011530199.1:c.903-40C>T XP_011528501.1:n.903-40C>T
XM_017028808.1:c.450-40C>T XP_016884297.1:n.450-40C>T