Canonical Allele Identifier: CA380855303

Gene: FTH1 BEST1

Linked Data

• MyVariant Identifiers: chr11:g.61732543C>A (hg19) ; chr11:g.61965071C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61965071C>A , CM000673.2:g.61965071C>A	GRCh38
NC_000011.9:g.61732543C>A , CM000673.1:g.61732543C>A	GRCh37
NC_000011.8:g.61489119C>A	NCBI36
NG_008346.1:g.7590G>T
NG_009033.1:g.20188C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620041.5:c.303G>T (FTH1)	ENSP00000484477.1:p.Met101Ile
ENST00000273550.12:c.303G>T (FTH1) MANE Select	ENSP00000273550.7:p.Met101Ile
ENST00000273550.11:c.303G>T (FTH1)	ENSP00000273550.7:p.Met101Ile
ENST00000449131.6:c.*1922C>A (BEST1)	ENSP00000399709.2:n.*1922C>A
ENST00000526640.5:c.213G>T (FTH1)	ENSP00000433321.1:p.Met71Ile
ENST00000529191.5:c.114+2241G>T (FTH1)	ENSP00000431659.1:n.114+2241G>T
ENST00000529548.1:c.93G>T (FTH1)	ENSP00000436947.1:p.Met31Ile
ENST00000529631.5:c.114+2241G>T (FTH1)	ENSP00000431575.1:n.114+2241G>T
ENST00000530019.5:c.261+298G>T (FTH1)	ENSP00000433470.1:n.261+298G>T
ENST00000532601.1:c.93G>T (FTH1)	ENSP00000435111.1:p.Met31Ile
ENST00000532829.5:c.*8G>T (FTH1)	ENSP00000432223.1:n.*8G>T
ENST00000533138.1:n.747G>T (FTH1)
ENST00000534180.1:c.*212G>T (FTH1)	ENSP00000434403.1:n.*212G>T
ENST00000534719.1:n.464G>T (FTH1)
ENST00000620041.4:c.303G>T (FTH1)	ENSP00000484477.1:p.Met101Ile
NM_002032.2:c.303G>T (FTH1)	NP_002023.2:p.Met101Ile
NM_002032.3:c.303G>T (FTH1) MANE Select	NP_002023.2:p.Met101Ile
NM_001139443.2:c.*1922C>A (BEST1)	NP_001132915.1:n.*1922C>A
NM_001363591.2:c.*1922C>A (BEST1)	NP_001350520.1:n.*1922C>A
NM_001363593.2:c.*1922C>A (BEST1)	NP_001350522.1:n.*1922C>A