Canonical Allele Identifier: CA367955855

Gene: NCF1

Linked Data

• MyVariant Identifiers: chr7:g.74203398C>T (hg19) ; chr7:g.74789054C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1067C>T MANE Select	ENSP00000289473.4:p.Thr356Met
ENST00000289473.10:c.1067C>T	ENSP00000289473.4:p.Thr356Met
ENST00000289473.8:c.1067C>T	ENSP00000289473.4:p.Thr356Met
ENST00000398421.6:n.2094C>T
ENST00000455062.2:n.1176C>T
NM_000265.5:c.1067C>T	NP_000256.4:p.Thr356Met
XM_005250543.3:c.1029C>T	XP_005250600.2:p.Asp343=
XM_011516498.1:c.1066C>T	XP_011514800.1:p.Arg356Cys
XM_011516501.1:c.674C>T	XP_011514803.1:p.Thr225Met
NM_000265.6:c.1067C>T	NP_000256.4:p.Thr356Met
NM_000265.7:c.1067C>T MANE Select	NP_000256.4:p.Thr356Met