Canonical Allele Identifier: CA2573142269

Gene: EGFR

Linked Data

• ClinVar Variation Id: 1573400
• ClinVar RCV Id: RCV002216013
• dbSNP Id: rs2128969760
• gnomAD v4: 7-55200308-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55200308T>C , CM000669.2:g.55200308T>C	GRCh38
NC_000007.13:g.55268001T>C , CM000669.1:g.55268001T>C	GRCh37
NC_000007.12:g.55235495T>C	NCBI36
NG_007726.3:g.186277T>C , LRG_304:g.186277T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2690-8T>C	ENSP00000413354.2:n.2690-8T>C
ENST00000700145.1:c.900-5039T>C
ENST00000700146.1:n.593-8T>C
ENST00000275493.7:c.2849-8T>C MANE Select	ENSP00000275493.2:n.2849-8T>C
ENST00000275493.6:c.2849-8T>C	ENSP00000275493.2:n.2849-8T>C
ENST00000442591.5:c.*28+27380T>C	ENSP00000410031.1:n.*28+27380T>C
ENST00000454757.6:c.2714-8T>C	ENSP00000395243.3:n.2714-8T>C
ENST00000455089.5:c.2714-8T>C	ENSP00000415559.1:n.2714-8T>C
ENST00000485503.1:n.179-8T>C
NM_005228.3:c.2849-8T>C , LRG_304t1:c.2849-8T>C	NP_005219.2:n.2849-8T>C
NM_001346897.1:c.2714-8T>C	NP_001333826.1:n.2714-8T>C
NM_001346898.1:c.2849-8T>C	NP_001333827.1:n.2849-8T>C
NM_001346899.1:c.2714-8T>C	NP_001333828.1:n.2714-8T>C
NM_001346900.1:c.2690-8T>C	NP_001333829.1:n.2690-8T>C
NM_001346941.1:c.2048-8T>C	NP_001333870.1:n.2048-8T>C
NM_005228.4:c.2849-8T>C	NP_005219.2:n.2849-8T>C
NM_005228.5:c.2849-8T>C MANE Select	NP_005219.2:n.2849-8T>C
NM_001346897.2:c.2714-8T>C	NP_001333826.1:n.2714-8T>C
NM_001346898.2:c.2849-8T>C	NP_001333827.1:n.2849-8T>C
NM_001346900.2:c.2690-8T>C	NP_001333829.1:n.2690-8T>C
NM_001346941.2:c.2048-8T>C	NP_001333870.1:n.2048-8T>C
NM_001346899.2:c.2714-8T>C	NP_001333828.1:n.2714-8T>C