Canonical Allele Identifier: CA367579001

Gene: EGFR EGFR-AS1

Linked Data

• dbSNP Id: rs2128958812
• gnomAD v4: 7-55181446-T-C
• MyVariant Identifiers: chr7:g.55249139T>C (hg19) ; chr7:g.55181446T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181446T>C , CM000669.2:g.55181446T>C	GRCh38
NC_000007.13:g.55249139T>C , CM000669.1:g.55249139T>C	GRCh37
NC_000007.12:g.55216633T>C	NCBI36
NG_007726.3:g.167415T>C , LRG_304:g.167415T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2278T>C (EGFR)	ENSP00000413354.2:p.Tyr760His
ENST00000700145.1:c.786T>C (EGFR)
ENST00000275493.7:c.2437T>C (EGFR) MANE Select	ENSP00000275493.2:p.Tyr813His
ENST00000275493.6:c.2437T>C (EGFR)	ENSP00000275493.2:p.Tyr813His
ENST00000442591.5:c.*28+8518T>C (EGFR)	ENSP00000410031.1:n.*28+8518T>C
ENST00000454757.6:c.2302T>C (EGFR)	ENSP00000395243.3:p.Tyr768His
ENST00000455089.5:c.2302T>C (EGFR)	ENSP00000415559.1:p.Tyr768His
NM_005228.3:c.2437T>C , LRG_304t1:c.2437T>C (EGFR)	NP_005219.2:p.Tyr813His
NR_047551.1:n.1125A>G (EGFR-AS1)
NM_001346897.1:c.2302T>C (EGFR)	NP_001333826.1:p.Tyr768His
NM_001346898.1:c.2437T>C (EGFR)	NP_001333827.1:p.Tyr813His
NM_001346899.1:c.2302T>C (EGFR)	NP_001333828.1:p.Tyr768His
NM_001346900.1:c.2278T>C (EGFR)	NP_001333829.1:p.Tyr760His
NM_001346941.1:c.1636T>C (EGFR)	NP_001333870.1:p.Tyr546His
NM_005228.4:c.2437T>C (EGFR)	NP_005219.2:p.Tyr813His
NM_005228.5:c.2437T>C (EGFR) MANE Select	NP_005219.2:p.Tyr813His
NM_001346897.2:c.2302T>C (EGFR)	NP_001333826.1:p.Tyr768His
NM_001346898.2:c.2437T>C (EGFR)	NP_001333827.1:p.Tyr813His
NM_001346900.2:c.2278T>C (EGFR)	NP_001333829.1:p.Tyr760His
NM_001346941.2:c.1636T>C (EGFR)	NP_001333870.1:p.Tyr546His
NM_001346899.2:c.2302T>C (EGFR)	NP_001333828.1:p.Tyr768His