Canonical Allele Identifier: CA842143326
Gene: NCF1 HGNC NCBI

Linked Data

dbSNP Id: rs1260426420
gnomAD v3: 7-74789271-C-A
gnomAD v4: 7-74789271-C-A
MyVariant Identifiers: chr7:g.74789271C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789271C>A , CM000669.2:g.74789271C>A GRCh38
NC_000007.13:g.74203615C>A , CM000669.1:g.74203615C>A GRCh37
NC_000007.12:g.73841551C>A NCBI36
NG_009078.2:g.20308C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000289473.11:c.*111C>A MANE Select ENSP00000289473.4:n.*111C>A
ENST00000289473.10:c.*111C>A ENSP00000289473.4:n.*111C>A
ENST00000289473.8:c.*111C>A ENSP00000289473.4:n.*111C>A
ENST00000398421.6:n.2311C>A
ENST00000455062.2:n.1393C>A
NM_000265.5:c.*111C>A NP_000256.4:n.*111C>A
XM_005250543.3:c.*205C>A XP_005250600.2:n.*205C>A
XM_011516498.1:c.*158C>A XP_011514800.1:n.*158C>A
XM_011516501.1:c.*111C>A XP_011514803.1:n.*111C>A
NM_000265.6:c.*111C>A NP_000256.4:n.*111C>A
NM_000265.7:c.*111C>A MANE Select NP_000256.4:n.*111C>A
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