Canonical Allele Identifier: CA2683318043

Gene: NCF1

Linked Data

• gnomAD v4: 7-74789231-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789231A>C , CM000669.2:g.74789231A>C	GRCh38
NC_000007.13:g.74203575A>C , CM000669.1:g.74203575A>C	GRCh37
NC_000007.12:g.73841511A>C	NCBI36
NG_009078.2:g.20268A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.*71A>C MANE Select	ENSP00000289473.4:n.*71A>C
ENST00000289473.10:c.*71A>C	ENSP00000289473.4:n.*71A>C
ENST00000289473.8:c.*71A>C	ENSP00000289473.4:n.*71A>C
ENST00000398421.6:n.2271A>C
ENST00000455062.2:n.1353A>C
NM_000265.5:c.*71A>C	NP_000256.4:n.*71A>C
XM_005250543.3:c.*165A>C	XP_005250600.2:n.*165A>C
XM_011516498.1:c.*118A>C	XP_011514800.1:n.*118A>C
XM_011516501.1:c.*71A>C	XP_011514803.1:n.*71A>C
NM_000265.6:c.*71A>C	NP_000256.4:n.*71A>C
NM_000265.7:c.*71A>C MANE Select	NP_000256.4:n.*71A>C