Canonical Allele Identifier: CA842142916

Gene: NCF1

Linked Data

• dbSNP Id: rs1465302108
• gnomAD v3: 7-74788896-CAGAG-C
• gnomAD v4: 7-74788896-CAGAG-C
• MyVariant Identifiers: chr7:g.74788897_74788900del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74788897_74788900del , CM000669.2:g.74788897_74788900del	GRCh38
NC_000007.13:g.74203241_74203244del , CM000669.1:g.74203241_74203244del	GRCh37
NC_000007.12:g.73841177_73841180del	NCBI36
NG_009078.2:g.19934_19937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1052-142_1052-139del MANE Select	ENSP00000289473.4:n.1052-142_1052-139del
ENST00000289473.10:c.1052-142_1052-139del	ENSP00000289473.4:n.1052-142_1052-139del
ENST00000289473.8:c.1052-142_1052-139del	ENSP00000289473.4:n.1052-142_1052-139del
ENST00000398421.6:n.2079-142_2079-139del
ENST00000455062.2:n.1161-142_1161-139del
NM_000265.5:c.1052-142_1052-139del	NP_000256.4:n.1052-142_1052-139del
XM_005250543.3:c.1014-142_1014-139del	XP_005250600.2:n.1014-142_1014-139del
XM_011516498.1:c.1051-142_1051-139del	XP_011514800.1:n.1051-142_1051-139del
XM_011516501.1:c.659-142_659-139del	XP_011514803.1:n.659-142_659-139del
NM_000265.6:c.1052-142_1052-139del	NP_000256.4:n.1052-142_1052-139del
NM_000265.7:c.1052-142_1052-139del MANE Select	NP_000256.4:n.1052-142_1052-139del