Canonical Allele Identifier: CA367956058

Gene: NCF1

Linked Data

• MyVariant Identifiers: chr7:g.74203458A>G (hg19) ; chr7:g.74789114A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74789114A>G , CM000669.2:g.74789114A>G	GRCh38
NC_000007.13:g.74203458A>G , CM000669.1:g.74203458A>G	GRCh37
NC_000007.12:g.73841394A>G	NCBI36
NG_009078.2:g.20151A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289473.11:c.1127A>G MANE Select	ENSP00000289473.4:p.Asn376Ser
ENST00000289473.10:c.1127A>G	ENSP00000289473.4:p.Asn376Ser
ENST00000289473.8:c.1127A>G	ENSP00000289473.4:p.Asn376Ser
ENST00000398421.6:n.2154A>G
ENST00000455062.2:n.1236A>G
NM_000265.5:c.1127A>G	NP_000256.4:p.Asn376Ser
XM_005250543.3:c.*48A>G	XP_005250600.2:n.*48A>G
XM_011516498.1:c.*1A>G	XP_011514800.1:n.*1A>G
XM_011516501.1:c.734A>G	XP_011514803.1:p.Asn245Ser
NM_000265.6:c.1127A>G	NP_000256.4:p.Asn376Ser
NM_000265.7:c.1127A>G MANE Select	NP_000256.4:p.Asn376Ser