Canonical Allele Identifier: CA350270072

Gene: NDUFB3

Linked Data

• dbSNP Id: rs2047281381
• gnomAD v4: 2-201085503-C-T
• COSMIC: COSM3576242
• MyVariant Identifiers: chr2:g.201950226C>T (hg19) ; chr2:g.201085503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201085503C>T , CM000664.2:g.201085503C>T	GRCh38
NC_000002.11:g.201950226C>T , CM000664.1:g.201950226C>T	GRCh37
NC_000002.10:g.201658471C>T	NCBI36
NG_032156.1:g.18765C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450023.6:c.185C>T	ENSP00000401834.2:p.Ser62Phe
ENST00000682325.1:c.185C>T	ENSP00000507925.1:p.Ser62Phe
ENST00000684175.1:c.185C>T	ENSP00000508132.1:p.Ser62Phe
ENST00000684420.1:c.185C>T	ENSP00000508208.1:p.Ser62Phe
ENST00000237889.9:c.185C>T MANE Select	ENSP00000237889.4:p.Ser62Phe
ENST00000237889.8:c.185C>T	ENSP00000237889.4:p.Ser62Phe
ENST00000433898.5:c.185C>T	ENSP00000410600.1:p.Ser62Phe
ENST00000450023.5:c.185C>T	ENSP00000401834.1:p.Ser62Phe
ENST00000454214.1:c.185C>T	ENSP00000407336.1:p.Ser62Phe
NM_001257102.1:c.185C>T	NP_001244031.1:p.Ser62Phe
NM_002491.2:c.185C>T	NP_002482.1:p.Ser62Phe
XM_011511230.1:c.185C>T	XP_011509532.1:p.Ser62Phe
XM_011511230.3:c.185C>T	XP_011509532.1:p.Ser62Phe
XM_017004186.2:c.185C>T	XP_016859675.1:p.Ser62Phe
NM_002491.3:c.185C>T MANE Select	NP_002482.1:p.Ser62Phe
NM_001257102.2:c.185C>T	NP_001244031.1:p.Ser62Phe