Canonical Allele Identifier: CA367953465

Gene: NCF1

Linked Data

• MyVariant Identifiers: chr7:g.74197933G>T (hg19) ; chr7:g.74783590G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74783590G>T , CM000669.2:g.74783590G>T	GRCh38
NC_000007.13:g.74197933G>T , CM000669.1:g.74197933G>T	GRCh37
NC_000007.12:g.73835869G>T	NCBI36
NG_009078.2:g.14627G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.640G>T MANE Select	ENSP00000289473.4:p.Asp214Tyr
ENST00000289473.10:c.640G>T	ENSP00000289473.4:p.Asp214Tyr
ENST00000289473.8:c.640G>T	ENSP00000289473.4:p.Asp214Tyr
ENST00000398421.6:n.1197G>T
ENST00000443956.7:n.761G>T
ENST00000455062.2:n.787G>T
ENST00000486097.1:n.148G>T
NM_000265.5:c.640G>T	NP_000256.4:p.Asp214Tyr
XM_005250543.3:c.640G>T	XP_005250600.2:p.Asp214Tyr
XM_005250544.3:c.640G>T	XP_005250601.2:p.Asp214Tyr
XM_011516498.1:c.640G>T	XP_011514800.1:p.Asp214Tyr
XM_011516499.1:c.640G>T	XP_011514801.1:p.Asp214Tyr
XM_011516500.1:c.640G>T	XP_011514802.1:p.Asp214Tyr
XM_011516501.1:c.247G>T	XP_011514803.1:p.Asp83Tyr
XR_242262.3:n.695G>T
XR_927515.1:n.695G>T
NM_000265.6:c.640G>T	NP_000256.4:p.Asp214Tyr
NM_000265.7:c.640G>T MANE Select	NP_000256.4:p.Asp214Tyr