Canonical Allele Identifier: CA6041205

Gene: FTH1 BEST1

Linked Data

• ClinVar Variation Id: 2636131
• ClinVar RCV Id: RCV003402863
• dbSNP Id: rs367593479
• ExAC: 11:61732237 C / T
• gnomAD v2: 11-61732237-C-T
• gnomAD v3: 11-61964765-C-T
• gnomAD v4: 11-61964765-C-T
• MyVariant Identifiers: chr11:g.61732237C>T (hg19) ; chr11:g.61964765C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964765C>T , CM000673.2:g.61964765C>T	GRCh38
NC_000011.9:g.61732237C>T , CM000673.1:g.61732237C>T	GRCh37
NC_000011.8:g.61488813C>T	NCBI36
NG_008346.1:g.7896G>A
NG_009033.1:g.19882C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.514G>A (FTH1)	ENSP00000484477.1:p.Asp172Asn
ENST00000273550.12:c.514G>A (FTH1) MANE Select	ENSP00000273550.7:p.Asp172Asn
ENST00000273550.11:c.514G>A (FTH1)	ENSP00000273550.7:p.Asp172Asn
ENST00000449131.6:c.*1616C>T (BEST1)	ENSP00000399709.2:n.*1616C>T
ENST00000526640.5:c.424G>A (FTH1)	ENSP00000433321.1:p.Asp142Asn
ENST00000529191.5:c.114+2547G>A (FTH1)	ENSP00000431659.1:n.114+2547G>A
ENST00000529631.5:c.114+2547G>A (FTH1)	ENSP00000431575.1:n.114+2547G>A
ENST00000530019.5:c.261+604G>A (FTH1)	ENSP00000433470.1:n.261+604G>A
ENST00000532601.1:c.304G>A (FTH1)	ENSP00000435111.1:p.Asp102Asn
ENST00000532829.5:c.*219G>A (FTH1)	ENSP00000432223.1:n.*219G>A
ENST00000534180.1:c.*423G>A (FTH1)	ENSP00000434403.1:n.*423G>A
ENST00000534719.1:n.770G>A (FTH1)
ENST00000620041.4:c.514G>A (FTH1)	ENSP00000484477.1:p.Asp172Asn
NM_002032.2:c.514G>A (FTH1)	NP_002023.2:p.Asp172Asn
NM_002032.3:c.514G>A (FTH1) MANE Select	NP_002023.2:p.Asp172Asn
NM_001139443.2:c.*1616C>T (BEST1)	NP_001132915.1:n.*1616C>T
NM_001363591.2:c.*1616C>T (BEST1)	NP_001350520.1:n.*1616C>T
NM_001363593.2:c.*1616C>T (BEST1)	NP_001350522.1:n.*1616C>T