Canonical Allele Identifier: CA1717689906

Gene: NCF1

Linked Data

• dbSNP Id: rs1796616559
• gnomAD v4: 7-74783517-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74783517T>C , CM000669.2:g.74783517T>C	GRCh38
NC_000007.13:g.74197860T>C , CM000669.1:g.74197860T>C	GRCh37
NC_000007.12:g.73835796T>C	NCBI36
NG_009078.2:g.14554T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.575-8T>C MANE Select	ENSP00000289473.4:n.575-8T>C
ENST00000289473.10:c.575-8T>C	ENSP00000289473.4:n.575-8T>C
ENST00000289473.8:c.575-8T>C	ENSP00000289473.4:n.575-8T>C
ENST00000398421.6:n.1124T>C
ENST00000443956.7:n.696-8T>C
ENST00000449343.6:n.1051T>C
ENST00000455062.2:n.714T>C
ENST00000464878.5:c.880T>C
ENST00000486097.1:n.75T>C
NM_000265.5:c.575-8T>C	NP_000256.4:n.575-8T>C
XM_005250543.3:c.575-8T>C	XP_005250600.2:n.575-8T>C
XM_005250544.3:c.575-8T>C	XP_005250601.2:n.575-8T>C
XM_011516498.1:c.575-8T>C	XP_011514800.1:n.575-8T>C
XM_011516499.1:c.575-8T>C	XP_011514801.1:n.575-8T>C
XM_011516500.1:c.575-8T>C	XP_011514802.1:n.575-8T>C
XM_011516501.1:c.182-8T>C	XP_011514803.1:n.182-8T>C
XR_242262.3:n.630-8T>C
XR_927515.1:n.630-8T>C
NM_000265.6:c.575-8T>C	NP_000256.4:n.575-8T>C
NM_000265.7:c.575-8T>C MANE Select	NP_000256.4:n.575-8T>C