Canonical Allele Identifier: CA367953183

Gene: NCF1

Linked Data

• dbSNP Id: rs1246085820
• gnomAD v3: 7-74783532-G-T
• gnomAD v4: 7-74783532-G-T
• MyVariant Identifiers: chr7:g.74197875G>T (hg19) ; chr7:g.74783532G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74783532G>T , CM000669.2:g.74783532G>T	GRCh38
NC_000007.13:g.74197875G>T , CM000669.1:g.74197875G>T	GRCh37
NC_000007.12:g.73835811G>T	NCBI36
NG_009078.2:g.14569G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.582G>T MANE Select	ENSP00000289473.4:p.Trp194Cys
ENST00000289473.10:c.582G>T	ENSP00000289473.4:p.Trp194Cys
ENST00000289473.8:c.582G>T	ENSP00000289473.4:p.Trp194Cys
ENST00000398421.6:n.1139G>T
ENST00000443956.7:n.703G>T
ENST00000449343.6:n.1066G>T
ENST00000455062.2:n.729G>T
ENST00000464878.5:c.895G>T
ENST00000486097.1:n.90G>T
NM_000265.5:c.582G>T	NP_000256.4:p.Trp194Cys
XM_005250543.3:c.582G>T	XP_005250600.2:p.Trp194Cys
XM_005250544.3:c.582G>T	XP_005250601.2:p.Trp194Cys
XM_011516498.1:c.582G>T	XP_011514800.1:p.Trp194Cys
XM_011516499.1:c.582G>T	XP_011514801.1:p.Trp194Cys
XM_011516500.1:c.582G>T	XP_011514802.1:p.Trp194Cys
XM_011516501.1:c.189G>T	XP_011514803.1:p.Trp63Cys
XR_242262.3:n.637G>T
XR_927515.1:n.637G>T
NM_000265.6:c.582G>T	NP_000256.4:p.Trp194Cys
NM_000265.7:c.582G>T MANE Select	NP_000256.4:p.Trp194Cys