Canonical Allele Identifier: CA367955899

Gene: NCF1

Linked Data

• dbSNP Id: rs1359242564
• gnomAD v2: 7-74203409-A-C
• gnomAD v3: 7-74789065-A-C
• gnomAD v4: 7-74789065-A-C
• MyVariant Identifiers: chr7:g.74203409A>C (hg19) ; chr7:g.74789065A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789065A>C , CM000669.2:g.74789065A>C	GRCh38
NC_000007.13:g.74203409A>C , CM000669.1:g.74203409A>C	GRCh37
NC_000007.12:g.73841345A>C	NCBI36
NG_009078.2:g.20102A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1078A>C MANE Select	ENSP00000289473.4:p.Lys360Gln
ENST00000289473.10:c.1078A>C	ENSP00000289473.4:p.Lys360Gln
ENST00000289473.8:c.1078A>C	ENSP00000289473.4:p.Lys360Gln
ENST00000398421.6:n.2105A>C
ENST00000455062.2:n.1187A>C
NM_000265.5:c.1078A>C	NP_000256.4:p.Lys360Gln
XM_005250543.3:c.1040A>C	XP_005250600.2:p.Ter347Ser
XM_011516498.1:c.1077A>C	XP_011514800.1:p.Leu359=
XM_011516501.1:c.685A>C	XP_011514803.1:p.Lys229Gln
NM_000265.6:c.1078A>C	NP_000256.4:p.Lys360Gln
NM_000265.7:c.1078A>C MANE Select	NP_000256.4:p.Lys360Gln