Canonical Allele Identifier: CA575376006

Gene: NCF1

Linked Data

• dbSNP Id: rs1478548639
• gnomAD v2: 7-74203604-C-T
• gnomAD v3: 7-74789260-C-T
• gnomAD v4: 7-74789260-C-T
• MyVariant Identifiers: chr7:g.74203604C>T (hg19) ; chr7:g.74789260C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789260C>T , CM000669.2:g.74789260C>T	GRCh38
NC_000007.13:g.74203604C>T , CM000669.1:g.74203604C>T	GRCh37
NC_000007.12:g.73841540C>T	NCBI36
NG_009078.2:g.20297C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000289473.11:c.*100C>T MANE Select	ENSP00000289473.4:n.*100C>T
ENST00000289473.10:c.*100C>T	ENSP00000289473.4:n.*100C>T
ENST00000289473.8:c.*100C>T	ENSP00000289473.4:n.*100C>T
ENST00000398421.6:n.2300C>T
ENST00000455062.2:n.1382C>T
NM_000265.5:c.*100C>T	NP_000256.4:n.*100C>T
XM_005250543.3:c.*194C>T	XP_005250600.2:n.*194C>T
XM_011516498.1:c.*147C>T	XP_011514800.1:n.*147C>T
XM_011516501.1:c.*100C>T	XP_011514803.1:n.*100C>T
NM_000265.6:c.*100C>T	NP_000256.4:n.*100C>T
NM_000265.7:c.*100C>T MANE Select	NP_000256.4:n.*100C>T