Canonical Allele Identifier: CA842143311

Gene: NCF1

Linked Data

• dbSNP Id: rs1467879929
• gnomAD v3: 7-74789215-T-C
• gnomAD v4: 7-74789215-T-C
• MyVariant Identifiers: chr7:g.74789215T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789215T>C , CM000669.2:g.74789215T>C	GRCh38
NG_009078.2:g.20252T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.*55T>C MANE Select	ENSP00000289473.4:n.*55T>C
ENST00000289473.10:c.*55T>C	ENSP00000289473.4:n.*55T>C
ENST00000289473.8:c.*55T>C	ENSP00000289473.4:n.*55T>C
ENST00000398421.6:n.2255T>C
ENST00000455062.2:n.1337T>C
NM_000265.5:c.*55T>C	NP_000256.4:n.*55T>C
XM_005250543.3:c.*149T>C	XP_005250600.2:n.*149T>C
XM_011516498.1:c.*102T>C	XP_011514800.1:n.*102T>C
XM_011516501.1:c.*55T>C	XP_011514803.1:n.*55T>C
NM_000265.6:c.*55T>C	NP_000256.4:n.*55T>C
NM_000265.7:c.*55T>C MANE Select	NP_000256.4:n.*55T>C