Canonical Allele Identifier: CA10624122

Gene: EGFR

Linked Data

• ClinVar Variation Id: 1246877
• ClinVar RCV Id: RCV001656223 ; RCV003316845
• dbSNP Id: rs712829
• gnomAD v2: 7-55086755-G-T
• gnomAD v3: 7-55019062-G-T
• gnomAD v4: 7-55019062-G-T
• MyVariant Identifiers: chr7:g.55086755G>T (hg19) ; chr7:g.55019062G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55019062G>T , CM000669.2:g.55019062G>T	GRCh38
NC_000007.13:g.55086755G>T , CM000669.1:g.55086755G>T	GRCh37
NC_000007.12:g.55054249G>T	NCBI36
NG_007726.3:g.5031G>T , LRG_304:g.5031G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000344576.7:c.-216G>T	ENSP00000345973.2:n.-216G>T
ENST00000275493.7:c.-216G>T MANE Select	ENSP00000275493.2:n.-216G>T
ENST00000342916.7:c.-216G>T	ENSP00000342376.3:n.-216G>T
ENST00000344576.6:c.-216G>T	ENSP00000345973.2:n.-216G>T
ENST00000420316.6:c.-216G>T	ENSP00000413843.2:n.-216G>T
ENST00000454757.6:c.-216G>T	ENSP00000395243.3:n.-216G>T
ENST00000455089.5:c.-216G>T	ENSP00000415559.1:n.-216G>T
NM_005228.3:c.-216G>T , LRG_304t1:c.-216G>T	NP_005219.2:n.-216G>T
NM_201282.1:c.-216G>T	NP_958439.1:n.-216G>T
NM_201283.1:c.-216G>T	NP_958440.1:n.-216G>T
NM_201284.1:c.-216G>T	NP_958441.1:n.-216G>T
NM_001346897.1:c.-216G>T	NP_001333826.1:n.-216G>T
NM_001346898.1:c.-216G>T	NP_001333827.1:n.-216G>T
NM_001346899.1:c.-216G>T	NP_001333828.1:n.-216G>T
NM_001346941.1:c.-216G>T	NP_001333870.1:n.-216G>T
NM_005228.4:c.-216G>T	NP_005219.2:n.-216G>T
XR_001745212.2:n.147C>A
NM_005228.5:c.-216G>T MANE Select	NP_005219.2:n.-216G>T
NM_001346897.2:c.-216G>T	NP_001333826.1:n.-216G>T
NM_001346898.2:c.-216G>T	NP_001333827.1:n.-216G>T
NM_001346941.2:c.-216G>T	NP_001333870.1:n.-216G>T
NM_201282.2:c.-216G>T	NP_958439.1:n.-216G>T
NM_201284.2:c.-216G>T	NP_958441.1:n.-216G>T
NM_001346899.2:c.-216G>T	NP_001333828.1:n.-216G>T
NM_201283.2:c.-216G>T	NP_958440.1:n.-216G>T