Canonical Allele Identifier: CA842143318

Gene: NCF1

Linked Data

• dbSNP Id: rs1428211418
• gnomAD v3: 7-74789251-A-C
• gnomAD v4: 7-74789251-A-C
• MyVariant Identifiers: chr7:g.74789251A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789251A>C , CM000669.2:g.74789251A>C	GRCh38
NC_000007.13:g.74203595A>C , CM000669.1:g.74203595A>C	GRCh37
NC_000007.12:g.73841531A>C	NCBI36
NG_009078.2:g.20288A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000289473.11:c.*91A>C MANE Select	ENSP00000289473.4:n.*91A>C
ENST00000289473.10:c.*91A>C	ENSP00000289473.4:n.*91A>C
ENST00000289473.8:c.*91A>C	ENSP00000289473.4:n.*91A>C
ENST00000398421.6:n.2291A>C
ENST00000455062.2:n.1373A>C
NM_000265.5:c.*91A>C	NP_000256.4:n.*91A>C
XM_005250543.3:c.*185A>C	XP_005250600.2:n.*185A>C
XM_011516498.1:c.*138A>C	XP_011514800.1:n.*138A>C
XM_011516501.1:c.*91A>C	XP_011514803.1:n.*91A>C
NM_000265.6:c.*91A>C	NP_000256.4:n.*91A>C
NM_000265.7:c.*91A>C MANE Select	NP_000256.4:n.*91A>C