Canonical Allele Identifier: CA1103162472
Gene: NCF1 HGNC NCBI

Linked Data

gnomAD v3: 7-74788973-G-T
gnomAD v4: 7-74788973-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74788973G>T , CM000669.2:g.74788973G>T GRCh38
NC_000007.13:g.74203317G>T , CM000669.1:g.74203317G>T GRCh37
NC_000007.12:g.73841253G>T NCBI36
NG_009078.2:g.20010G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000289473.11:c.1052-66G>T MANE Select ENSP00000289473.4:n.1052-66G>T
ENST00000289473.10:c.1052-66G>T ENSP00000289473.4:n.1052-66G>T
ENST00000289473.8:c.1052-66G>T ENSP00000289473.4:n.1052-66G>T
ENST00000398421.6:n.2079-66G>T
ENST00000455062.2:n.1161-66G>T
NM_000265.5:c.1052-66G>T NP_000256.4:n.1052-66G>T
XM_005250543.3:c.1014-66G>T XP_005250600.2:n.1014-66G>T
XM_011516498.1:c.1051-66G>T XP_011514800.1:n.1051-66G>T
XM_011516501.1:c.659-66G>T XP_011514803.1:n.659-66G>T
NM_000265.6:c.1052-66G>T NP_000256.4:n.1052-66G>T
NM_000265.7:c.1052-66G>T MANE Select NP_000256.4:n.1052-66G>T