Canonical Allele Identifier: CA455897536

Gene: NCF1

Linked Data

• dbSNP Id: rs1796730605
• gnomAD v4: 7-74789046-G-A
• MyVariant Identifiers: chr7:g.74203390G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789046G>A , CM000669.2:g.74789046G>A	GRCh38
NC_000007.13:g.74203390G>A , CM000669.1:g.74203390G>A	GRCh37
NC_000007.12:g.73841326G>A	NCBI36
NG_009078.2:g.20083G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1059G>A MANE Select	ENSP00000289473.4:p.Glu353=
ENST00000289473.10:c.1059G>A	ENSP00000289473.4:p.Glu353=
ENST00000289473.8:c.1059G>A	ENSP00000289473.4:p.Glu353=
ENST00000398421.6:n.2086G>A
ENST00000455062.2:n.1168G>A
NM_000265.5:c.1059G>A	NP_000256.4:p.Glu353=
XM_005250543.3:c.1021G>A	XP_005250600.2:p.Ala341Thr
XM_011516498.1:c.1058G>A	XP_011514800.1:p.Ser353Asn
XM_011516501.1:c.666G>A	XP_011514803.1:p.Glu222=
NM_000265.6:c.1059G>A	NP_000256.4:p.Glu353=
NM_000265.7:c.1059G>A MANE Select	NP_000256.4:p.Glu353=