Canonical Allele Identifier: CA1717693148
Gene: NCF1 HGNC NCBI

Linked Data

dbSNP Id: rs1278899025
gnomAD v3: 7-74789170-G-T
gnomAD v4: 7-74789170-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74789170G>T , CM000669.2:g.74789170G>T GRCh38
NC_000007.13:g.74203514G>T , CM000669.1:g.74203514G>T GRCh37
NC_000007.12:g.73841450G>T NCBI36
NG_009078.2:g.20207G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000289473.11:c.*10G>T MANE Select ENSP00000289473.4:n.*10G>T
ENST00000289473.10:c.*10G>T ENSP00000289473.4:n.*10G>T
ENST00000289473.8:c.*10G>T ENSP00000289473.4:n.*10G>T
ENST00000398421.6:n.2210G>T
ENST00000455062.2:n.1292G>T
NM_000265.5:c.*10G>T NP_000256.4:n.*10G>T
XM_005250543.3:c.*104G>T XP_005250600.2:n.*104G>T
XM_011516498.1:c.*57G>T XP_011514800.1:n.*57G>T
XM_011516501.1:c.*10G>T XP_011514803.1:n.*10G>T
NM_000265.6:c.*10G>T NP_000256.4:n.*10G>T
NM_000265.7:c.*10G>T MANE Select NP_000256.4:n.*10G>T