Canonical Allele Identifier: CA367953491

Gene: NCF1

Linked Data

• dbSNP Id: rs376919169
• MyVariant Identifiers: chr7:g.74197944C>A (hg19) ; chr7:g.74783601C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74783601C>A , CM000669.2:g.74783601C>A	GRCh38
NC_000007.13:g.74197944C>A , CM000669.1:g.74197944C>A	GRCh37
NC_000007.12:g.73835880C>A	NCBI36
NG_009078.2:g.14638C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.651C>A MANE Select	ENSP00000289473.4:p.Asp217Glu
ENST00000289473.10:c.651C>A	ENSP00000289473.4:p.Asp217Glu
ENST00000289473.8:c.651C>A	ENSP00000289473.4:p.Asp217Glu
ENST00000398421.6:n.1208C>A
ENST00000443956.7:n.772C>A
ENST00000455062.2:n.798C>A
ENST00000486097.1:n.159C>A
NM_000265.5:c.651C>A	NP_000256.4:p.Asp217Glu
XM_005250543.3:c.651C>A	XP_005250600.2:p.Asp217Glu
XM_005250544.3:c.651C>A	XP_005250601.2:p.Asp217Glu
XM_011516498.1:c.651C>A	XP_011514800.1:p.Asp217Glu
XM_011516499.1:c.651C>A	XP_011514801.1:p.Asp217Glu
XM_011516500.1:c.651C>A	XP_011514802.1:p.Asp217Glu
XM_011516501.1:c.258C>A	XP_011514803.1:p.Asp86Glu
XR_242262.3:n.706C>A
XR_927515.1:n.706C>A
NM_000265.6:c.651C>A	NP_000256.4:p.Asp217Glu
NM_000265.7:c.651C>A MANE Select	NP_000256.4:p.Asp217Glu