Canonical Allele Identifier: CA6041196

Gene: FTH1 BEST1

Linked Data

• ClinVar Variation Id: 3046577
• ClinVar RCV Id: RCV003934567
• dbSNP Id: rs780121825
• ExAC: 11:61732194 G / A
• gnomAD v2: 11-61732194-G-A
• gnomAD v3: 11-61964722-G-A
• gnomAD v4: 11-61964722-G-A
• MyVariant Identifiers: chr11:g.61732194G>A (hg19) ; chr11:g.61964722G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964722G>A , CM000673.2:g.61964722G>A	GRCh38
NC_000011.9:g.61732194G>A , CM000673.1:g.61732194G>A	GRCh37
NC_000011.8:g.61488770G>A	NCBI36
NG_008346.1:g.7939C>T
NG_009033.1:g.19839G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.*5C>T (FTH1)	ENSP00000484477.1:n.*5C>T
ENST00000273550.12:c.*5C>T (FTH1) MANE Select	ENSP00000273550.7:n.*5C>T
ENST00000273550.11:c.*5C>T (FTH1)	ENSP00000273550.7:n.*5C>T
ENST00000449131.6:c.*1573G>A (BEST1)	ENSP00000399709.2:n.*1573G>A
ENST00000526640.5:c.*5C>T (FTH1)	ENSP00000433321.1:n.*5C>T
ENST00000529191.5:c.114+2590C>T (FTH1)	ENSP00000431659.1:n.114+2590C>T
ENST00000529631.5:c.114+2590C>T (FTH1)	ENSP00000431575.1:n.114+2590C>T
ENST00000530019.5:c.261+647C>T (FTH1)	ENSP00000433470.1:n.261+647C>T
ENST00000532601.1:c.*5C>T (FTH1)	ENSP00000435111.1:n.*5C>T
ENST00000532829.5:c.*262C>T (FTH1)	ENSP00000432223.1:n.*262C>T
ENST00000534180.1:c.*466C>T (FTH1)	ENSP00000434403.1:n.*466C>T
ENST00000620041.4:c.*5C>T (FTH1)	ENSP00000484477.1:n.*5C>T
NM_002032.2:c.*5C>T (FTH1)	NP_002023.2:n.*5C>T
NM_002032.3:c.*5C>T (FTH1) MANE Select	NP_002023.2:n.*5C>T
NM_001139443.2:c.*1573G>A (BEST1)	NP_001132915.1:n.*1573G>A
NM_001363591.2:c.*1573G>A (BEST1)	NP_001350520.1:n.*1573G>A
NM_001363593.2:c.*1573G>A (BEST1)	NP_001350522.1:n.*1573G>A