Canonical Allele Identifier: CA367584133
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs2128954689
MyVariant Identifiers: chr7:g.55242461T>A (hg19) chr7:g.55174768T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174768T>A , CM000669.2:g.55174768T>A GRCh38
NC_000007.13:g.55242461T>A , CM000669.1:g.55242461T>A GRCh37
NC_000007.12:g.55209955T>A NCBI36
NG_007726.3:g.160737T>A , LRG_304:g.160737T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2072T>A ENSP00000413354.2:p.Ile691Asn
ENST00000700145.1:c.580T>A
ENST00000275493.7:c.2231T>A MANE Select ENSP00000275493.2:p.Ile744Asn
ENST00000275493.6:c.2231T>A ENSP00000275493.2:p.Ile744Asn
ENST00000442591.5:c.*28+1840T>A ENSP00000410031.1:n.*28+1840T>A
ENST00000454757.6:c.2096T>A ENSP00000395243.3:p.Ile699Asn
ENST00000455089.5:c.2096T>A ENSP00000415559.1:p.Ile699Asn
NM_005228.3:c.2231T>A , LRG_304t1:c.2231T>A NP_005219.2:p.Ile744Asn
NM_001346897.1:c.2096T>A NP_001333826.1:p.Ile699Asn
NM_001346898.1:c.2231T>A NP_001333827.1:p.Ile744Asn
NM_001346899.1:c.2096T>A NP_001333828.1:p.Ile699Asn
NM_001346900.1:c.2072T>A NP_001333829.1:p.Ile691Asn
NM_001346941.1:c.1430T>A NP_001333870.1:p.Ile477Asn
NM_005228.4:c.2231T>A NP_005219.2:p.Ile744Asn
NM_005228.5:c.2231T>A MANE Select NP_005219.2:p.Ile744Asn
NM_001346897.2:c.2096T>A NP_001333826.1:p.Ile699Asn
NM_001346898.2:c.2231T>A NP_001333827.1:p.Ile744Asn
NM_001346900.2:c.2072T>A NP_001333829.1:p.Ile691Asn
NM_001346941.2:c.1430T>A NP_001333870.1:p.Ile477Asn
NM_001346899.2:c.2096T>A NP_001333828.1:p.Ile699Asn
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