Canonical Allele Identifier: CA2683316886

Gene: NCF1

Linked Data

• gnomAD v4: 7-74783472-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74783472C>T , CM000669.2:g.74783472C>T	GRCh38
NC_000007.13:g.74197815C>T , CM000669.1:g.74197815C>T	GRCh37
NC_000007.12:g.73835751C>T	NCBI36
NG_009078.2:g.14509C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.575-53C>T MANE Select	ENSP00000289473.4:n.575-53C>T
ENST00000289473.10:c.575-53C>T	ENSP00000289473.4:n.575-53C>T
ENST00000289473.8:c.575-53C>T	ENSP00000289473.4:n.575-53C>T
ENST00000398421.6:n.1079C>T
ENST00000443956.7:n.696-53C>T
ENST00000449343.6:n.1006C>T
ENST00000455062.2:n.669C>T
ENST00000464878.5:c.835C>T
ENST00000486097.1:n.30C>T
NM_000265.5:c.575-53C>T	NP_000256.4:n.575-53C>T
XM_005250543.3:c.575-53C>T	XP_005250600.2:n.575-53C>T
XM_005250544.3:c.575-53C>T	XP_005250601.2:n.575-53C>T
XM_011516498.1:c.575-53C>T	XP_011514800.1:n.575-53C>T
XM_011516499.1:c.575-53C>T	XP_011514801.1:n.575-53C>T
XM_011516500.1:c.575-53C>T	XP_011514802.1:n.575-53C>T
XM_011516501.1:c.182-53C>T	XP_011514803.1:n.182-53C>T
XR_242262.3:n.630-53C>T
XR_927515.1:n.630-53C>T
NM_000265.6:c.575-53C>T	NP_000256.4:n.575-53C>T
NM_000265.7:c.575-53C>T MANE Select	NP_000256.4:n.575-53C>T