Canonical Allele Identifier: CA10629256
Gene: EGFR HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.55019087A>C
GRCh37 chr7:g.55086780A>C
gnomAD v2:
7:55086780 A / C
gnomAD v3:
7:55019087 A / C
gnomAD v4:
chr7-55019087-A-C
Joint Max Group AF 0.98667149 (EAS)
Genomes Max Group AF 0.97490945 (EAS)
Exomes Max Group AF 0.98486318 (EAS)
ClinVar RCV:
RCV001612795
RCV003316844
ClinVar Variation:
1232163
dbSNP:
712830
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55019087A>C , CM000669.2:g.55019087A>C GRCh38
NC_000007.13:g.55086780A>C , CM000669.1:g.55086780A>C GRCh37
NC_000007.12:g.55054274A>C NCBI36
NG_007726.3:g.5056A>C , LRG_304:g.5056A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344576.7:c.-191A>C ENSP00000345973.2:n.-191A>C
ENST00000275493.7:c.-191A>C MANE Select ENSP00000275493.2:n.-191A>C
ENST00000342916.7:c.-191A>C ENSP00000342376.3:n.-191A>C
ENST00000344576.6:c.-191A>C ENSP00000345973.2:n.-191A>C
ENST00000420316.6:c.-191A>C ENSP00000413843.2:n.-191A>C
ENST00000454757.6:c.-191A>C ENSP00000395243.3:n.-191A>C
ENST00000455089.5:c.-191A>C ENSP00000415559.1:n.-191A>C
NM_005228.3:c.-191A>C , LRG_304t1:c.-191A>C NP_005219.2:n.-191A>C
NM_201282.1:c.-191A>C NP_958439.1:n.-191A>C
NM_201283.1:c.-191A>C NP_958440.1:n.-191A>C
NM_201284.1:c.-191A>C NP_958441.1:n.-191A>C
NM_001346897.1:c.-191A>C NP_001333826.1:n.-191A>C
NM_001346898.1:c.-191A>C NP_001333827.1:n.-191A>C
NM_001346899.1:c.-191A>C NP_001333828.1:n.-191A>C
NM_001346941.1:c.-191A>C NP_001333870.1:n.-191A>C
NM_005228.4:c.-191A>C NP_005219.2:n.-191A>C
XR_001745212.2:n.122T>G
NM_005228.5:c.-191A>C MANE Select NP_005219.2:n.-191A>C
NM_001346897.2:c.-191A>C NP_001333826.1:n.-191A>C
NM_001346898.2:c.-191A>C NP_001333827.1:n.-191A>C
NM_001346941.2:c.-191A>C NP_001333870.1:n.-191A>C
NM_201282.2:c.-191A>C NP_958439.1:n.-191A>C
NM_201284.2:c.-191A>C NP_958441.1:n.-191A>C
NM_001346899.2:c.-191A>C NP_001333828.1:n.-191A>C
NM_201283.2:c.-191A>C NP_958440.1:n.-191A>C
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