Canonical Allele Identifier: CA7491418

Gene: NDUFAF1

Linked Data

• dbSNP Id: rs377321530
• ExAC: 15:41689277 G / T
• gnomAD v2: 15-41689277-G-T
• gnomAD v3: 15-41397079-G-T
• gnomAD v4: 15-41397079-G-T
• MyVariant Identifiers: chr15:g.41689277G>T (hg19) ; chr15:g.41397079G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41397079G>T , CM000677.2:g.41397079G>T	GRCh38
NC_000015.9:g.41689277G>T , CM000677.1:g.41689277G>T	GRCh37
NC_000015.8:g.39476569G>T	NCBI36
NG_031924.1:g.10382C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260361.9:c.-20C>A MANE Select	ENSP00000260361.4:n.-20C>A
ENST00000558719.2:c.-20C>A	ENSP00000454083.2:n.-20C>A
ENST00000560978.2:c.-20C>A	ENSP00000453944.2:n.-20C>A
ENST00000676533.1:c.-20C>A	ENSP00000504040.1:n.-20C>A
ENST00000676906.1:c.-359-120C>A	ENSP00000503122.1:n.-359-120C>A
ENST00000677477.1:n.1207C>A
ENST00000678029.1:c.-20C>A	ENSP00000503887.1:n.-20C>A
ENST00000678745.1:c.-20C>A	ENSP00000503632.1:n.-20C>A
ENST00000679094.1:c.-20C>A	ENSP00000504295.1:n.-20C>A
ENST00000679240.1:n.379C>A
ENST00000260361.8:c.-20C>A	ENSP00000260361.4:n.-20C>A
ENST00000558719.1:c.-20C>A	ENSP00000454083.1:n.-20C>A
ENST00000559127.5:c.-20C>A	ENSP00000453027.1:n.-20C>A
ENST00000560978.1:c.-20C>A	ENSP00000453944.1:n.-20C>A
NM_016013.3:c.-20C>A	NP_057097.2:n.-20C>A
NR_045620.1:n.379C>A
XM_006720555.1:c.-20C>A	XP_006720618.1:n.-20C>A
XM_011521658.1:c.-20C>A	XP_011519960.1:n.-20C>A
XM_011521659.1:c.-20C>A	XP_011519961.1:n.-20C>A
XM_006720555.3:c.-20C>A	XP_006720618.1:n.-20C>A
XM_011521659.3:c.-20C>A	XP_011519961.1:n.-20C>A
XM_024449945.1:c.-20C>A	XP_024305713.1:n.-20C>A
NM_016013.4:c.-20C>A MANE Select	NP_057097.2:n.-20C>A
NR_045620.2:n.415C>A