Canonical Allele Identifier: CA842143285

Gene: NCF1

Linked Data

• dbSNP Id: rs1401972963
• gnomAD v3: 7-74789172-A-T
• gnomAD v4: 7-74789172-A-T
• MyVariant Identifiers: chr7:g.74789172A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789172A>T , CM000669.2:g.74789172A>T	GRCh38
NC_000007.13:g.74203516A>T , CM000669.1:g.74203516A>T	GRCh37
NC_000007.12:g.73841452A>T	NCBI36
NG_009078.2:g.20209A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.*12A>T MANE Select	ENSP00000289473.4:n.*12A>T
ENST00000289473.10:c.*12A>T	ENSP00000289473.4:n.*12A>T
ENST00000289473.8:c.*12A>T	ENSP00000289473.4:n.*12A>T
ENST00000398421.6:n.2212A>T
ENST00000455062.2:n.1294A>T
NM_000265.5:c.*12A>T	NP_000256.4:n.*12A>T
XM_005250543.3:c.*106A>T	XP_005250600.2:n.*106A>T
XM_011516498.1:c.*59A>T	XP_011514800.1:n.*59A>T
XM_011516501.1:c.*12A>T	XP_011514803.1:n.*12A>T
NM_000265.6:c.*12A>T	NP_000256.4:n.*12A>T
NM_000265.7:c.*12A>T MANE Select	NP_000256.4:n.*12A>T