Canonical Allele Identifier: CA408176196
Gene: FERMT1 HGNC NCBI

Linked Data

COSMIC: COSM3668499
MyVariant Identifiers: chr20:g.6060107C>T (hg19) chr20:g.6079460C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6079460C>T , CM000682.2:g.6079460C>T GRCh38
NC_000020.10:g.6060107C>T , CM000682.1:g.6060107C>T GRCh37
NC_000020.9:g.6008107C>T NCBI36
NG_016213.1:g.49085G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699095.1:c.1836G>A ENSP00000514127.1:p.Trp612Ter
ENST00000217289.9:c.1836G>A MANE Select ENSP00000217289.4:p.Trp612Ter
ENST00000217289.8:c.1836G>A ENSP00000217289.4:p.Trp612Ter
ENST00000478194.1:n.796G>A
ENST00000536936.1:c.1065G>A ENSP00000441063.1:p.Trp355Ter
NM_017671.4:c.1836G>A NP_060141.3:p.Trp612Ter
XM_024451935.1:c.1836G>A XP_024307703.1:p.Trp612Ter
NM_017671.5:c.1836G>A MANE Select NP_060141.3:p.Trp612Ter
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