Canonical Allele Identifier: CA575376002

Gene: NCF1

Linked Data

• dbSNP Id: rs1554415082
• gnomAD v2: 7-74203568-T-C
• gnomAD v4: 7-74789224-T-C
• MyVariant Identifiers: chr7:g.74203568T>C (hg19) ; chr7:g.74789224T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789224T>C , CM000669.2:g.74789224T>C	GRCh38
NC_000007.13:g.74203568T>C , CM000669.1:g.74203568T>C	GRCh37
NC_000007.12:g.73841504T>C	NCBI36
NG_009078.2:g.20261T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.*64T>C MANE Select	ENSP00000289473.4:n.*64T>C
ENST00000289473.10:c.*64T>C	ENSP00000289473.4:n.*64T>C
ENST00000289473.8:c.*64T>C	ENSP00000289473.4:n.*64T>C
ENST00000398421.6:n.2264T>C
ENST00000455062.2:n.1346T>C
NM_000265.5:c.*64T>C	NP_000256.4:n.*64T>C
XM_005250543.3:c.*158T>C	XP_005250600.2:n.*158T>C
XM_011516498.1:c.*111T>C	XP_011514800.1:n.*111T>C
XM_011516501.1:c.*64T>C	XP_011514803.1:n.*64T>C
NM_000265.6:c.*64T>C	NP_000256.4:n.*64T>C
NM_000265.7:c.*64T>C MANE Select	NP_000256.4:n.*64T>C