Canonical Allele Identifier: CA367956126

Gene: NCF1

Linked Data

• MyVariant Identifiers: chr7:g.74203486G>T (hg19) ; chr7:g.74789142G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789142G>T , CM000669.2:g.74789142G>T	GRCh38
NC_000007.13:g.74203486G>T , CM000669.1:g.74203486G>T	GRCh37
NC_000007.12:g.73841422G>T	NCBI36
NG_009078.2:g.20179G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1155G>T MANE Select	ENSP00000289473.4:p.Lys385Asn
ENST00000289473.10:c.1155G>T	ENSP00000289473.4:p.Lys385Asn
ENST00000289473.8:c.1155G>T	ENSP00000289473.4:p.Lys385Asn
ENST00000398421.6:n.2182G>T
ENST00000455062.2:n.1264G>T
NM_000265.5:c.1155G>T	NP_000256.4:p.Lys385Asn
XM_005250543.3:c.*76G>T	XP_005250600.2:n.*76G>T
XM_011516498.1:c.*29G>T	XP_011514800.1:n.*29G>T
XM_011516501.1:c.762G>T	XP_011514803.1:p.Lys254Asn
NM_000265.6:c.1155G>T	NP_000256.4:p.Lys385Asn
NM_000265.7:c.1155G>T MANE Select	NP_000256.4:p.Lys385Asn