Canonical Allele Identifier: CA6041349
Community Standard Title: NM_002032.3(FTH1):c.-2C>T
Gene: FTH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61967427G>A , CM000673.2:g.61967427G>A GRCh38
NC_000011.9:g.61734899G>A , CM000673.1:g.61734899G>A GRCh37
NC_000011.8:g.61491475G>A NCBI36
NG_008346.1:g.5234C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002032.3:c.-2C>T MANE Select NP_002023.2:n.-2C>T
ENST00000273550.12:c.-2C>T MANE Select ENSP00000273550.7:n.-2C>T
NM_002032.2:c.-2C>T NP_002023.2:n.-2C>T
ENST00000273550.11:c.-2C>T ENSP00000273550.7:n.-2C>T
ENST00000526640.5:c.-2C>T ENSP00000433321.1:n.-2C>T
ENST00000529191.5:c.-2C>T ENSP00000431659.1:n.-2C>T
ENST00000529548.1:c.-219+31C>T ENSP00000436947.1:n.-219+31C>T
ENST00000529631.5:c.-2C>T ENSP00000431575.1:n.-2C>T
ENST00000530019.5:c.-2C>T ENSP00000433470.1:n.-2C>T
ENST00000532829.5:c.-2C>T ENSP00000432223.1:n.-2C>T
ENST00000533138.1:n.187C>T
ENST00000534180.1:c.-2C>T ENSP00000434403.1:n.-2C>T
ENST00000534719.1:n.160C>T
ENST00000620041.4:c.-2C>T ENSP00000484477.1:n.-2C>T
ENST00000620041.5:c.-2C>T ENSP00000484477.1:n.-2C>T