Canonical Allele Identifier: CA1103162886
Gene: NCF1 HGNC NCBI

Linked Data

dbSNP Id: rs1554415081
gnomAD v3: 7-74789217-T-C
gnomAD v4: 7-74789217-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789217T>C , CM000669.2:g.74789217T>C GRCh38
NC_000007.13:g.74203561T>C , CM000669.1:g.74203561T>C GRCh37
NC_000007.12:g.73841497T>C NCBI36
NG_009078.2:g.20254T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000289473.11:c.*57T>C MANE Select ENSP00000289473.4:n.*57T>C
ENST00000289473.10:c.*57T>C ENSP00000289473.4:n.*57T>C
ENST00000289473.8:c.*57T>C ENSP00000289473.4:n.*57T>C
ENST00000398421.6:n.2257T>C
ENST00000455062.2:n.1339T>C
NM_000265.5:c.*57T>C NP_000256.4:n.*57T>C
XM_005250543.3:c.*151T>C XP_005250600.2:n.*151T>C
XM_011516498.1:c.*104T>C XP_011514800.1:n.*104T>C
XM_011516501.1:c.*57T>C XP_011514803.1:n.*57T>C
NM_000265.6:c.*57T>C NP_000256.4:n.*57T>C
NM_000265.7:c.*57T>C MANE Select NP_000256.4:n.*57T>C
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