Canonical Allele Identifier: CA4266012
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs758357735
gnomAD v2: 7-55242420-C-G
gnomAD v4: 7-55174727-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174727C>G , CM000669.2:g.55174727C>G GRCh38
NC_000007.13:g.55242420C>G , CM000669.1:g.55242420C>G GRCh37
NC_000007.12:g.55209914C>G NCBI36
NG_007726.3:g.160696C>G , LRG_304:g.160696C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2031C>G ENSP00000413354.2:p.Leu677=
ENST00000700145.1:c.539C>G
ENST00000275493.7:c.2190C>G MANE Select ENSP00000275493.2:p.Leu730=
ENST00000275493.6:c.2190C>G ENSP00000275493.2:p.Leu730=
ENST00000442591.5:c.*28+1799C>G ENSP00000410031.1:n.*28+1799C>G
ENST00000454757.6:c.2055C>G ENSP00000395243.3:p.Leu685=
ENST00000455089.5:c.2055C>G ENSP00000415559.1:p.Leu685=
NM_005228.3:c.2190C>G , LRG_304t1:c.2190C>G NP_005219.2:p.Leu730=
NM_001346897.1:c.2055C>G NP_001333826.1:p.Leu685=
NM_001346898.1:c.2190C>G NP_001333827.1:p.Leu730=
NM_001346899.1:c.2055C>G NP_001333828.1:p.Leu685=
NM_001346900.1:c.2031C>G NP_001333829.1:p.Leu677=
NM_001346941.1:c.1389C>G NP_001333870.1:p.Leu463=
NM_005228.4:c.2190C>G NP_005219.2:p.Leu730=
NM_005228.5:c.2190C>G MANE Select NP_005219.2:p.Leu730=
NM_001346897.2:c.2055C>G NP_001333826.1:p.Leu685=
NM_001346898.2:c.2190C>G NP_001333827.1:p.Leu730=
NM_001346900.2:c.2031C>G NP_001333829.1:p.Leu677=
NM_001346941.2:c.1389C>G NP_001333870.1:p.Leu463=
NM_001346899.2:c.2055C>G NP_001333828.1:p.Leu685=