Canonical Allele Identifier: CA367953605

Gene: NCF1

Linked Data

• dbSNP Id: rs1554414139
• gnomAD v2: 7-74197967-A-C
• gnomAD v4: 7-74783624-A-C
• MyVariant Identifiers: chr7:g.74197967A>C (hg19) ; chr7:g.74783624A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74783624A>C , CM000669.2:g.74783624A>C	GRCh38
NC_000007.13:g.74197967A>C , CM000669.1:g.74197967A>C	GRCh37
NC_000007.12:g.73835903A>C	NCBI36
NG_009078.2:g.14661A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.674A>C MANE Select	ENSP00000289473.4:p.Asn225Thr
ENST00000289473.10:c.674A>C	ENSP00000289473.4:p.Asn225Thr
ENST00000289473.8:c.674A>C	ENSP00000289473.4:p.Asn225Thr
ENST00000398421.6:n.1231A>C
ENST00000443956.7:n.795A>C
ENST00000455062.2:n.821A>C
ENST00000486097.1:n.182A>C
NM_000265.5:c.674A>C	NP_000256.4:p.Asn225Thr
XM_005250543.3:c.674A>C	XP_005250600.2:p.Asn225Thr
XM_005250544.3:c.674A>C	XP_005250601.2:p.Asn225Thr
XM_011516498.1:c.674A>C	XP_011514800.1:p.Asn225Thr
XM_011516499.1:c.674A>C	XP_011514801.1:p.Asn225Thr
XM_011516500.1:c.674A>C	XP_011514802.1:p.Asn225Thr
XM_011516501.1:c.281A>C	XP_011514803.1:p.Asn94Thr
XR_242262.3:n.729A>C
XR_927515.1:n.729A>C
NM_000265.6:c.674A>C	NP_000256.4:p.Asn225Thr
NM_000265.7:c.674A>C MANE Select	NP_000256.4:p.Asn225Thr