Canonical Allele Identifier: CA575374915

Gene: NCF1

Linked Data

• dbSNP Id: rs1273233655
• gnomAD v2: 7-74197863-C-A
• gnomAD v3: 7-74783520-C-A
• gnomAD v4: 7-74783520-C-A
• MyVariant Identifiers: chr7:g.74197863C>A (hg19) ; chr7:g.74783520C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74783520C>A , CM000669.2:g.74783520C>A	GRCh38
NC_000007.13:g.74197863C>A , CM000669.1:g.74197863C>A	GRCh37
NC_000007.12:g.73835799C>A	NCBI36
NG_009078.2:g.14557C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.575-5C>A MANE Select	ENSP00000289473.4:n.575-5C>A
ENST00000289473.10:c.575-5C>A	ENSP00000289473.4:n.575-5C>A
ENST00000289473.8:c.575-5C>A	ENSP00000289473.4:n.575-5C>A
ENST00000398421.6:n.1127C>A
ENST00000443956.7:n.696-5C>A
ENST00000449343.6:n.1054C>A
ENST00000455062.2:n.717C>A
ENST00000464878.5:c.883C>A
ENST00000486097.1:n.78C>A
NM_000265.5:c.575-5C>A	NP_000256.4:n.575-5C>A
XM_005250543.3:c.575-5C>A	XP_005250600.2:n.575-5C>A
XM_005250544.3:c.575-5C>A	XP_005250601.2:n.575-5C>A
XM_011516498.1:c.575-5C>A	XP_011514800.1:n.575-5C>A
XM_011516499.1:c.575-5C>A	XP_011514801.1:n.575-5C>A
XM_011516500.1:c.575-5C>A	XP_011514802.1:n.575-5C>A
XM_011516501.1:c.182-5C>A	XP_011514803.1:n.182-5C>A
XR_242262.3:n.630-5C>A
XR_927515.1:n.630-5C>A
NM_000265.6:c.575-5C>A	NP_000256.4:n.575-5C>A
NM_000265.7:c.575-5C>A MANE Select	NP_000256.4:n.575-5C>A