Canonical Allele Identifier: CA4298227

Gene: NCF1

Linked Data

• dbSNP Id: rs587693328
• ExAC: 7:74197888 A / C
• gnomAD v2: 7-74197888-A-C
• gnomAD v3: 7-74783545-A-C
• gnomAD v4: 7-74783545-A-C
• MyVariant Identifiers: chr7:g.74197888A>C (hg19) ; chr7:g.74783545A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74783545A>C , CM000669.2:g.74783545A>C	GRCh38
NC_000007.13:g.74197888A>C , CM000669.1:g.74197888A>C	GRCh37
NC_000007.12:g.73835824A>C	NCBI36
NG_009078.2:g.14582A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.595A>C MANE Select	ENSP00000289473.4:p.Lys199Gln
ENST00000289473.10:c.595A>C	ENSP00000289473.4:p.Lys199Gln
ENST00000289473.8:c.595A>C	ENSP00000289473.4:p.Lys199Gln
ENST00000398421.6:n.1152A>C
ENST00000443956.7:n.716A>C
ENST00000455062.2:n.742A>C
ENST00000464878.5:c.908A>C
ENST00000486097.1:n.103A>C
NM_000265.5:c.595A>C	NP_000256.4:p.Lys199Gln
XM_005250543.3:c.595A>C	XP_005250600.2:p.Lys199Gln
XM_005250544.3:c.595A>C	XP_005250601.2:p.Lys199Gln
XM_011516498.1:c.595A>C	XP_011514800.1:p.Lys199Gln
XM_011516499.1:c.595A>C	XP_011514801.1:p.Lys199Gln
XM_011516500.1:c.595A>C	XP_011514802.1:p.Lys199Gln
XM_011516501.1:c.202A>C	XP_011514803.1:p.Lys68Gln
XR_242262.3:n.650A>C
XR_927515.1:n.650A>C
NM_000265.6:c.595A>C	NP_000256.4:p.Lys199Gln
NM_000265.7:c.595A>C MANE Select	NP_000256.4:p.Lys199Gln