Canonical Allele Identifier: CA1103162915

Gene: NCF1

Linked Data

• dbSNP Id: rs1584377230
• gnomAD v3: 7-74789227-A-C
• gnomAD v4: 7-74789227-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789227A>C , CM000669.2:g.74789227A>C	GRCh38
NC_000007.13:g.74203571A>C , CM000669.1:g.74203571A>C	GRCh37
NC_000007.12:g.73841507A>C	NCBI36
NG_009078.2:g.20264A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.*67A>C MANE Select	ENSP00000289473.4:n.*67A>C
ENST00000289473.10:c.*67A>C	ENSP00000289473.4:n.*67A>C
ENST00000289473.8:c.*67A>C	ENSP00000289473.4:n.*67A>C
ENST00000398421.6:n.2267A>C
ENST00000455062.2:n.1349A>C
NM_000265.5:c.*67A>C	NP_000256.4:n.*67A>C
XM_005250543.3:c.*161A>C	XP_005250600.2:n.*161A>C
XM_011516498.1:c.*114A>C	XP_011514800.1:n.*114A>C
XM_011516501.1:c.*67A>C	XP_011514803.1:n.*67A>C
NM_000265.6:c.*67A>C	NP_000256.4:n.*67A>C
NM_000265.7:c.*67A>C MANE Select	NP_000256.4:n.*67A>C