Canonical Allele Identifier: CA575784560

Gene: NCF1

Linked Data

• dbSNP Id: rs1554415041
• gnomAD v2: 7-74203360-T-C
• gnomAD v4: 7-74789016-T-C
• MyVariant Identifiers: chr7:g.74203360T>C (hg19) ; chr7:g.74789016T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789016T>C , CM000669.2:g.74789016T>C	GRCh38
NC_000007.13:g.74203360T>C , CM000669.1:g.74203360T>C	GRCh37
NC_000007.12:g.73841296T>C	NCBI36
NG_009078.2:g.20053T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1052-23T>C MANE Select	ENSP00000289473.4:n.1052-23T>C
ENST00000289473.10:c.1052-23T>C	ENSP00000289473.4:n.1052-23T>C
ENST00000289473.8:c.1052-23T>C	ENSP00000289473.4:n.1052-23T>C
ENST00000398421.6:n.2079-23T>C
ENST00000455062.2:n.1161-23T>C
NM_000265.5:c.1052-23T>C	NP_000256.4:n.1052-23T>C
XM_005250543.3:c.1014-23T>C	XP_005250600.2:n.1014-23T>C
XM_011516498.1:c.1051-23T>C	XP_011514800.1:n.1051-23T>C
XM_011516501.1:c.659-23T>C	XP_011514803.1:n.659-23T>C
NM_000265.6:c.1052-23T>C	NP_000256.4:n.1052-23T>C
NM_000265.7:c.1052-23T>C MANE Select	NP_000256.4:n.1052-23T>C