Canonical Allele Identifier: CA135943
Gene: EGFR HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.55191841G>A
GRCh37 chr7:g.55259534G>A
gnomAD v2:
7:55259534 G / A
gnomAD v3:
7:55191841 G / A
gnomAD v4:
chr7-55191841-G-A
Joint Max Group AF 0.00025554 (SAS)
Genomes Max Group AF 0.00007299 (SAS)
Exomes Max Group AF 0.00024999 (SAS)
ClinVar RCV:
RCV000038444
RCV001445017
ClinVar Variation:
45288
dbSNP:
397517131
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191841G>A , CM000669.2:g.55191841G>A GRCh38
NC_000007.13:g.55259534G>A , CM000669.1:g.55259534G>A GRCh37
NC_000007.12:g.55227028G>A NCBI36
NG_007726.3:g.177810G>A , LRG_304:g.177810G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450046.2:c.2433G>A ENSP00000413354.2:p.Ala811=
ENST00000700145.1:c.899+42G>A
ENST00000275493.7:c.2592G>A MANE Select ENSP00000275493.2:p.Ala864=
ENST00000275493.6:c.2592G>A ENSP00000275493.2:p.Ala864=
ENST00000442591.5:c.*28+18913G>A ENSP00000410031.1:n.*28+18913G>A
ENST00000454757.6:c.2457G>A ENSP00000395243.3:p.Ala819=
ENST00000455089.5:c.2457G>A ENSP00000415559.1:p.Ala819=
NM_005228.3:c.2592G>A , LRG_304t1:c.2592G>A NP_005219.2:p.Ala864=
NM_001346897.1:c.2457G>A NP_001333826.1:p.Ala819=
NM_001346898.1:c.2592G>A NP_001333827.1:p.Ala864=
NM_001346899.1:c.2457G>A NP_001333828.1:p.Ala819=
NM_001346900.1:c.2433G>A NP_001333829.1:p.Ala811=
NM_001346941.1:c.1791G>A NP_001333870.1:p.Ala597=
NM_005228.4:c.2592G>A NP_005219.2:p.Ala864=
NM_005228.5:c.2592G>A MANE Select NP_005219.2:p.Ala864=
NM_001346897.2:c.2457G>A NP_001333826.1:p.Ala819=
NM_001346898.2:c.2592G>A NP_001333827.1:p.Ala864=
NM_001346900.2:c.2433G>A NP_001333829.1:p.Ala811=
NM_001346941.2:c.1791G>A NP_001333870.1:p.Ala597=
NM_001346899.2:c.2457G>A NP_001333828.1:p.Ala819=
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