Canonical Allele Identifier: CA367578783

Gene: EGFR EGFR-AS1

Linked Data

• ClinVar Variation Id: 1019301
• ClinVar RCV Id: RCV001318720
• dbSNP Id: rs397517120
• gnomAD v4: 7-55181345-G-A
• COSMIC: COSM133202
• MyVariant Identifiers: chr7:g.55249038G>A (hg19) ; chr7:g.55181345G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181345G>A , CM000669.2:g.55181345G>A	GRCh38
NC_000007.13:g.55249038G>A , CM000669.1:g.55249038G>A	GRCh37
NC_000007.12:g.55216532G>A	NCBI36
NG_007726.3:g.167314G>A , LRG_304:g.167314G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2177G>A (EGFR)	ENSP00000413354.2:p.Gly726Asp
ENST00000700145.1:c.685G>A (EGFR)
ENST00000275493.7:c.2336G>A (EGFR) MANE Select	ENSP00000275493.2:p.Gly779Asp
ENST00000275493.6:c.2336G>A (EGFR)	ENSP00000275493.2:p.Gly779Asp
ENST00000442591.5:c.*28+8417G>A (EGFR)	ENSP00000410031.1:n.*28+8417G>A
ENST00000454757.6:c.2201G>A (EGFR)	ENSP00000395243.3:p.Gly734Asp
ENST00000455089.5:c.2201G>A (EGFR)	ENSP00000415559.1:p.Gly734Asp
NM_005228.3:c.2336G>A , LRG_304t1:c.2336G>A (EGFR)	NP_005219.2:p.Gly779Asp
NR_047551.1:n.1226C>T (EGFR-AS1)
NM_001346897.1:c.2201G>A (EGFR)	NP_001333826.1:p.Gly734Asp
NM_001346898.1:c.2336G>A (EGFR)	NP_001333827.1:p.Gly779Asp
NM_001346899.1:c.2201G>A (EGFR)	NP_001333828.1:p.Gly734Asp
NM_001346900.1:c.2177G>A (EGFR)	NP_001333829.1:p.Gly726Asp
NM_001346941.1:c.1535G>A (EGFR)	NP_001333870.1:p.Gly512Asp
NM_005228.4:c.2336G>A (EGFR)	NP_005219.2:p.Gly779Asp
NM_005228.5:c.2336G>A (EGFR) MANE Select	NP_005219.2:p.Gly779Asp
NM_001346897.2:c.2201G>A (EGFR)	NP_001333826.1:p.Gly734Asp
NM_001346898.2:c.2336G>A (EGFR)	NP_001333827.1:p.Gly779Asp
NM_001346900.2:c.2177G>A (EGFR)	NP_001333829.1:p.Gly726Asp
NM_001346941.2:c.1535G>A (EGFR)	NP_001333870.1:p.Gly512Asp
NM_001346899.2:c.2201G>A (EGFR)	NP_001333828.1:p.Gly734Asp