Canonical Allele Identifier: CA367953589

Gene: NCF1

Linked Data

• gnomAD v4: 7-74783620-C-T
• MyVariant Identifiers: chr7:g.74197963C>T (hg19) ; chr7:g.74783620C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74783620C>T , CM000669.2:g.74783620C>T	GRCh38
NC_000007.13:g.74197963C>T , CM000669.1:g.74197963C>T	GRCh37
NC_000007.12:g.73835899C>T	NCBI36
NG_009078.2:g.14657C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.670C>T MANE Select	ENSP00000289473.4:p.Pro224Ser
ENST00000289473.10:c.670C>T	ENSP00000289473.4:p.Pro224Ser
ENST00000289473.8:c.670C>T	ENSP00000289473.4:p.Pro224Ser
ENST00000398421.6:n.1227C>T
ENST00000443956.7:n.791C>T
ENST00000455062.2:n.817C>T
ENST00000486097.1:n.178C>T
NM_000265.5:c.670C>T	NP_000256.4:p.Pro224Ser
XM_005250543.3:c.670C>T	XP_005250600.2:p.Pro224Ser
XM_005250544.3:c.670C>T	XP_005250601.2:p.Pro224Ser
XM_011516498.1:c.670C>T	XP_011514800.1:p.Pro224Ser
XM_011516499.1:c.670C>T	XP_011514801.1:p.Pro224Ser
XM_011516500.1:c.670C>T	XP_011514802.1:p.Pro224Ser
XM_011516501.1:c.277C>T	XP_011514803.1:p.Pro93Ser
XR_242262.3:n.725C>T
XR_927515.1:n.725C>T
NM_000265.6:c.670C>T	NP_000256.4:p.Pro224Ser
NM_000265.7:c.670C>T MANE Select	NP_000256.4:p.Pro224Ser