Canonical Allele Identifier: CA367953461

Gene: NCF1

Linked Data

• gnomAD v4: 7-74783588-T-C
• MyVariant Identifiers: chr7:g.74197931T>C (hg19) ; chr7:g.74783588T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74783588T>C , CM000669.2:g.74783588T>C	GRCh38
NC_000007.13:g.74197931T>C , CM000669.1:g.74197931T>C	GRCh37
NC_000007.12:g.73835867T>C	NCBI36
NG_009078.2:g.14625T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.638T>C MANE Select	ENSP00000289473.4:p.Leu213Pro
ENST00000289473.10:c.638T>C	ENSP00000289473.4:p.Leu213Pro
ENST00000289473.8:c.638T>C	ENSP00000289473.4:p.Leu213Pro
ENST00000398421.6:n.1195T>C
ENST00000443956.7:n.759T>C
ENST00000455062.2:n.785T>C
ENST00000486097.1:n.146T>C
NM_000265.5:c.638T>C	NP_000256.4:p.Leu213Pro
XM_005250543.3:c.638T>C	XP_005250600.2:p.Leu213Pro
XM_005250544.3:c.638T>C	XP_005250601.2:p.Leu213Pro
XM_011516498.1:c.638T>C	XP_011514800.1:p.Leu213Pro
XM_011516499.1:c.638T>C	XP_011514801.1:p.Leu213Pro
XM_011516500.1:c.638T>C	XP_011514802.1:p.Leu213Pro
XM_011516501.1:c.245T>C	XP_011514803.1:p.Leu82Pro
XR_242262.3:n.693T>C
XR_927515.1:n.693T>C
NM_000265.6:c.638T>C	NP_000256.4:p.Leu213Pro
NM_000265.7:c.638T>C MANE Select	NP_000256.4:p.Leu213Pro