Canonical Allele Identifier: CA367956128

Gene: NCF1

Linked Data

• gnomAD v4: 7-74789143-C-G
• MyVariant Identifiers: chr7:g.74203487C>G (hg19) ; chr7:g.74789143C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789143C>G , CM000669.2:g.74789143C>G	GRCh38
NC_000007.13:g.74203487C>G , CM000669.1:g.74203487C>G	GRCh37
NC_000007.12:g.73841423C>G	NCBI36
NG_009078.2:g.20180C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1156C>G MANE Select	ENSP00000289473.4:p.Leu386Val
ENST00000289473.10:c.1156C>G	ENSP00000289473.4:p.Leu386Val
ENST00000289473.8:c.1156C>G	ENSP00000289473.4:p.Leu386Val
ENST00000398421.6:n.2183C>G
ENST00000455062.2:n.1265C>G
NM_000265.5:c.1156C>G	NP_000256.4:p.Leu386Val
XM_005250543.3:c.*77C>G	XP_005250600.2:n.*77C>G
XM_011516498.1:c.*30C>G	XP_011514800.1:n.*30C>G
XM_011516501.1:c.763C>G	XP_011514803.1:p.Leu255Val
NM_000265.6:c.1156C>G	NP_000256.4:p.Leu386Val
NM_000265.7:c.1156C>G MANE Select	NP_000256.4:p.Leu386Val