Canonical Allele Identifier: CA1717693243

Gene: NCF1

Linked Data

• dbSNP Id: rs1796735416
• gnomAD v4: 7-74789286-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789286C>T , CM000669.2:g.74789286C>T	GRCh38
NC_000007.13:g.74203630C>T , CM000669.1:g.74203630C>T	GRCh37
NC_000007.12:g.73841566C>T	NCBI36
NG_009078.2:g.20323C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.*126C>T MANE Select	ENSP00000289473.4:n.*126C>T
ENST00000289473.10:c.*126C>T	ENSP00000289473.4:n.*126C>T
ENST00000289473.8:c.*126C>T	ENSP00000289473.4:n.*126C>T
ENST00000398421.6:n.2326C>T
ENST00000455062.2:n.1408C>T
NM_000265.5:c.*126C>T	NP_000256.4:n.*126C>T
XM_005250543.3:c.*220C>T	XP_005250600.2:n.*220C>T
XM_011516498.1:c.*173C>T	XP_011514800.1:n.*173C>T
XM_011516501.1:c.*126C>T	XP_011514803.1:n.*126C>T
NM_000265.6:c.*126C>T	NP_000256.4:n.*126C>T
NM_000265.7:c.*126C>T MANE Select	NP_000256.4:n.*126C>T