Canonical Allele Identifier: CA7491379

Gene: NDUFAF1

Linked Data

• ClinVar Variation Id: 1362095
• ClinVar RCV Id: RCV001900007 ; RCV002272508 ; RCV004039790
• dbSNP Id: rs201452351
• ExAC: 15:41689059 C / T
• gnomAD v2: 15-41689059-C-T
• gnomAD v3: 15-41396861-C-T
• gnomAD v4: 15-41396861-C-T
• MyVariant Identifiers: chr15:g.41689059C>T (hg19) ; chr15:g.41396861C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41396861C>T , CM000677.2:g.41396861C>T	GRCh38
NC_000015.9:g.41689059C>T , CM000677.1:g.41689059C>T	GRCh37
NC_000015.8:g.39476351C>T	NCBI36
NG_031924.1:g.10600G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260361.9:c.199G>A MANE Select	ENSP00000260361.4:p.Val67Ile
ENST00000558719.2:c.199G>A	ENSP00000454083.2:p.Val67Ile
ENST00000560978.2:c.199G>A	ENSP00000453944.2:p.Val67Ile
ENST00000676533.1:c.199G>A	ENSP00000504040.1:p.Val67Ile
ENST00000676906.1:c.-261G>A	ENSP00000503122.1:n.-261G>A
ENST00000677477.1:n.1425G>A
ENST00000678029.1:c.199G>A	ENSP00000503887.1:p.Val67Ile
ENST00000678745.1:c.199G>A	ENSP00000503632.1:p.Val67Ile
ENST00000679094.1:c.199G>A	ENSP00000504295.1:p.Val67Ile
ENST00000679240.1:n.597G>A
ENST00000260361.8:c.199G>A	ENSP00000260361.4:p.Val67Ile
ENST00000558719.1:c.199G>A	ENSP00000454083.1:p.Val67Ile
ENST00000559127.5:c.199G>A	ENSP00000453027.1:p.Val67Ile
ENST00000560978.1:c.199G>A	ENSP00000453944.1:p.Val67Ile
NM_016013.3:c.199G>A	NP_057097.2:p.Val67Ile
NR_045620.1:n.597G>A
XM_006720555.1:c.199G>A	XP_006720618.1:p.Val67Ile
XM_011521658.1:c.199G>A	XP_011519960.1:p.Val67Ile
XM_011521659.1:c.199G>A	XP_011519961.1:p.Val67Ile
XM_006720555.3:c.199G>A	XP_006720618.1:p.Val67Ile
XM_011521659.3:c.199G>A	XP_011519961.1:p.Val67Ile
XM_024449945.1:c.199G>A	XP_024305713.1:p.Val67Ile
NM_016013.4:c.199G>A MANE Select	NP_057097.2:p.Val67Ile
NR_045620.2:n.633G>A