Canonical Allele Identifier: CA367582497

Gene: EGFR

Linked Data

• ClinVar Variation Id: 1989295
• ClinVar RCV Id: RCV002786438
• dbSNP Id: rs1787835111
• gnomAD v3: 7-55201261-T-C
• gnomAD v4: 7-55201261-T-C
• MyVariant Identifiers: chr7:g.55268954T>C (hg19) ; chr7:g.55201261T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55201261T>C , CM000669.2:g.55201261T>C	GRCh38
NC_000007.13:g.55268954T>C , CM000669.1:g.55268954T>C	GRCh37
NC_000007.12:g.55236448T>C	NCBI36
NG_007726.3:g.187230T>C , LRG_304:g.187230T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2861T>C	ENSP00000413354.2:p.Met954Thr
ENST00000700145.1:c.900-4086T>C
ENST00000700146.1:n.764T>C
ENST00000700147.1:n.689T>C
ENST00000275493.7:c.3020T>C MANE Select	ENSP00000275493.2:p.Met1007Thr
ENST00000275493.6:c.3020T>C	ENSP00000275493.2:p.Met1007Thr
ENST00000442591.5:c.*28+28333T>C	ENSP00000410031.1:n.*28+28333T>C
ENST00000454757.6:c.2885T>C	ENSP00000395243.3:p.Met962Thr
ENST00000455089.5:c.2885T>C	ENSP00000415559.1:p.Met962Thr
NM_005228.3:c.3020T>C , LRG_304t1:c.3020T>C	NP_005219.2:p.Met1007Thr
NM_001346897.1:c.2885T>C	NP_001333826.1:p.Met962Thr
NM_001346898.1:c.3020T>C	NP_001333827.1:p.Met1007Thr
NM_001346899.1:c.2885T>C	NP_001333828.1:p.Met962Thr
NM_001346900.1:c.2861T>C	NP_001333829.1:p.Met954Thr
NM_001346941.1:c.2219T>C	NP_001333870.1:p.Met740Thr
NM_005228.4:c.3020T>C	NP_005219.2:p.Met1007Thr
NM_005228.5:c.3020T>C MANE Select	NP_005219.2:p.Met1007Thr
NM_001346897.2:c.2885T>C	NP_001333826.1:p.Met962Thr
NM_001346898.2:c.3020T>C	NP_001333827.1:p.Met1007Thr
NM_001346900.2:c.2861T>C	NP_001333829.1:p.Met954Thr
NM_001346941.2:c.2219T>C	NP_001333870.1:p.Met740Thr
NM_001346899.2:c.2885T>C	NP_001333828.1:p.Met962Thr