Canonical Allele Identifier: CA380853613

Gene: FTH1 BEST1

Linked Data

• dbSNP Id: rs1942401238
• gnomAD v4: 11-61964761-T-C
• MyVariant Identifiers: chr11:g.61732233T>C (hg19) ; chr11:g.61964761T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61964761T>C , CM000673.2:g.61964761T>C	GRCh38
NC_000011.9:g.61732233T>C , CM000673.1:g.61732233T>C	GRCh37
NC_000011.8:g.61488809T>C	NCBI36
NG_008346.1:g.7900A>G
NG_009033.1:g.19878T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.518A>G (FTH1)	ENSP00000484477.1:p.Lys173Arg
ENST00000273550.12:c.518A>G (FTH1) MANE Select	ENSP00000273550.7:p.Lys173Arg
ENST00000273550.11:c.518A>G (FTH1)	ENSP00000273550.7:p.Lys173Arg
ENST00000449131.6:c.*1612T>C (BEST1)	ENSP00000399709.2:n.*1612T>C
ENST00000526640.5:c.428A>G (FTH1)	ENSP00000433321.1:p.Lys143Arg
ENST00000529191.5:c.114+2551A>G (FTH1)	ENSP00000431659.1:n.114+2551A>G
ENST00000529631.5:c.114+2551A>G (FTH1)	ENSP00000431575.1:n.114+2551A>G
ENST00000530019.5:c.261+608A>G (FTH1)	ENSP00000433470.1:n.261+608A>G
ENST00000532601.1:c.308A>G (FTH1)	ENSP00000435111.1:p.Lys103Arg
ENST00000532829.5:c.*223A>G (FTH1)	ENSP00000432223.1:n.*223A>G
ENST00000534180.1:c.*427A>G (FTH1)	ENSP00000434403.1:n.*427A>G
ENST00000534719.1:n.774A>G (FTH1)
ENST00000620041.4:c.518A>G (FTH1)	ENSP00000484477.1:p.Lys173Arg
NM_002032.2:c.518A>G (FTH1)	NP_002023.2:p.Lys173Arg
NM_002032.3:c.518A>G (FTH1) MANE Select	NP_002023.2:p.Lys173Arg
NM_001139443.2:c.*1612T>C (BEST1)	NP_001132915.1:n.*1612T>C
NM_001363591.2:c.*1612T>C (BEST1)	NP_001350520.1:n.*1612T>C
NM_001363593.2:c.*1612T>C (BEST1)	NP_001350522.1:n.*1612T>C