Canonical Allele Identifier: CA367578868

Gene: EGFR EGFR-AS1

Linked Data

• gnomAD v4: 7-55181386-A-C
• MyVariant Identifiers: chr7:g.55249079A>C (hg19) ; chr7:g.55181386A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181386A>C , CM000669.2:g.55181386A>C	GRCh38
NC_000007.13:g.55249079A>C , CM000669.1:g.55249079A>C	GRCh37
NC_000007.12:g.55216573A>C	NCBI36
NG_007726.3:g.167355A>C , LRG_304:g.167355A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2218A>C (EGFR)	ENSP00000413354.2:p.Met740Leu
ENST00000700145.1:c.726A>C (EGFR)
ENST00000275493.7:c.2377A>C (EGFR) MANE Select	ENSP00000275493.2:p.Met793Leu
ENST00000275493.6:c.2377A>C (EGFR)	ENSP00000275493.2:p.Met793Leu
ENST00000442591.5:c.*28+8458A>C (EGFR)	ENSP00000410031.1:n.*28+8458A>C
ENST00000454757.6:c.2242A>C (EGFR)	ENSP00000395243.3:p.Met748Leu
ENST00000455089.5:c.2242A>C (EGFR)	ENSP00000415559.1:p.Met748Leu
NM_005228.3:c.2377A>C , LRG_304t1:c.2377A>C (EGFR)	NP_005219.2:p.Met793Leu
NR_047551.1:n.1185T>G (EGFR-AS1)
NM_001346897.1:c.2242A>C (EGFR)	NP_001333826.1:p.Met748Leu
NM_001346898.1:c.2377A>C (EGFR)	NP_001333827.1:p.Met793Leu
NM_001346899.1:c.2242A>C (EGFR)	NP_001333828.1:p.Met748Leu
NM_001346900.1:c.2218A>C (EGFR)	NP_001333829.1:p.Met740Leu
NM_001346941.1:c.1576A>C (EGFR)	NP_001333870.1:p.Met526Leu
NM_005228.4:c.2377A>C (EGFR)	NP_005219.2:p.Met793Leu
NM_005228.5:c.2377A>C (EGFR) MANE Select	NP_005219.2:p.Met793Leu
NM_001346897.2:c.2242A>C (EGFR)	NP_001333826.1:p.Met748Leu
NM_001346898.2:c.2377A>C (EGFR)	NP_001333827.1:p.Met793Leu
NM_001346900.2:c.2218A>C (EGFR)	NP_001333829.1:p.Met740Leu
NM_001346941.2:c.1576A>C (EGFR)	NP_001333870.1:p.Met526Leu
NM_001346899.2:c.2242A>C (EGFR)	NP_001333828.1:p.Met748Leu