Canonical Allele Identifier: CA2683318041

Gene: NCF1

Linked Data

• gnomAD v4: 7-74789230-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789230G>C , CM000669.2:g.74789230G>C	GRCh38
NC_000007.13:g.74203574G>C , CM000669.1:g.74203574G>C	GRCh37
NC_000007.12:g.73841510G>C	NCBI36
NG_009078.2:g.20267G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.*70G>C MANE Select	ENSP00000289473.4:n.*70G>C
ENST00000289473.10:c.*70G>C	ENSP00000289473.4:n.*70G>C
ENST00000289473.8:c.*70G>C	ENSP00000289473.4:n.*70G>C
ENST00000398421.6:n.2270G>C
ENST00000455062.2:n.1352G>C
NM_000265.5:c.*70G>C	NP_000256.4:n.*70G>C
XM_005250543.3:c.*164G>C	XP_005250600.2:n.*164G>C
XM_011516498.1:c.*117G>C	XP_011514800.1:n.*117G>C
XM_011516501.1:c.*70G>C	XP_011514803.1:n.*70G>C
NM_000265.6:c.*70G>C	NP_000256.4:n.*70G>C
NM_000265.7:c.*70G>C MANE Select	NP_000256.4:n.*70G>C