Canonical Allele Identifier: CA367955854

Gene: NCF1

Linked Data

• dbSNP Id: rs1303750209
• gnomAD v3: 7-74789054-C-A
• gnomAD v4: 7-74789054-C-A
• MyVariant Identifiers: chr7:g.74203398C>A (hg19) ; chr7:g.74789054C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789054C>A , CM000669.2:g.74789054C>A	GRCh38
NC_000007.13:g.74203398C>A , CM000669.1:g.74203398C>A	GRCh37
NC_000007.12:g.73841334C>A	NCBI36
NG_009078.2:g.20091C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1067C>A MANE Select	ENSP00000289473.4:p.Thr356Lys
ENST00000289473.10:c.1067C>A	ENSP00000289473.4:p.Thr356Lys
ENST00000289473.8:c.1067C>A	ENSP00000289473.4:p.Thr356Lys
ENST00000398421.6:n.2094C>A
ENST00000455062.2:n.1176C>A
NM_000265.5:c.1067C>A	NP_000256.4:p.Thr356Lys
XM_005250543.3:c.1029C>A	XP_005250600.2:p.Asp343Glu
XM_011516498.1:c.1066C>A	XP_011514800.1:p.Arg356Ser
XM_011516501.1:c.674C>A	XP_011514803.1:p.Thr225Lys
NM_000265.6:c.1067C>A	NP_000256.4:p.Thr356Lys
NM_000265.7:c.1067C>A MANE Select	NP_000256.4:p.Thr356Lys