Canonical Allele Identifier: CA575784568

Gene: NCF1

Linked Data

• dbSNP Id: rs1355791474
• gnomAD v2: 7-74203380-C-T
• gnomAD v3: 7-74789036-C-T
• gnomAD v4: 7-74789036-C-T
• MyVariant Identifiers: chr7:g.74203380C>T (hg19) ; chr7:g.74789036C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789036C>T , CM000669.2:g.74789036C>T	GRCh38
NC_000007.13:g.74203380C>T , CM000669.1:g.74203380C>T	GRCh37
NC_000007.12:g.73841316C>T	NCBI36
NG_009078.2:g.20073C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1052-3C>T MANE Select	ENSP00000289473.4:n.1052-3C>T
ENST00000289473.10:c.1052-3C>T	ENSP00000289473.4:n.1052-3C>T
ENST00000289473.8:c.1052-3C>T	ENSP00000289473.4:n.1052-3C>T
ENST00000398421.6:n.2079-3C>T
ENST00000455062.2:n.1161-3C>T
NM_000265.5:c.1052-3C>T	NP_000256.4:n.1052-3C>T
XM_005250543.3:c.1014-3C>T	XP_005250600.2:n.1014-3C>T
XM_011516498.1:c.1051-3C>T	XP_011514800.1:n.1051-3C>T
XM_011516501.1:c.659-3C>T	XP_011514803.1:n.659-3C>T
NM_000265.6:c.1052-3C>T	NP_000256.4:n.1052-3C>T
NM_000265.7:c.1052-3C>T MANE Select	NP_000256.4:n.1052-3C>T