Canonical Allele Identifier: CA367578864

Gene: EGFR EGFR-AS1

Linked Data

• ClinVar Variation Id: 1404199
• ClinVar RCV Id: RCV001927668
• dbSNP Id: rs2128958658
• gnomAD v4: 7-55181383-C-T
• MyVariant Identifiers: chr7:g.55249076C>T (hg19) ; chr7:g.55181383C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181383C>T , CM000669.2:g.55181383C>T	GRCh38
NC_000007.13:g.55249076C>T , CM000669.1:g.55249076C>T	GRCh37
NC_000007.12:g.55216570C>T	NCBI36
NG_007726.3:g.167352C>T , LRG_304:g.167352C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2215C>T (EGFR)	ENSP00000413354.2:p.Leu739Phe
ENST00000700145.1:c.723C>T (EGFR)
ENST00000275493.7:c.2374C>T (EGFR) MANE Select	ENSP00000275493.2:p.Leu792Phe
ENST00000275493.6:c.2374C>T (EGFR)	ENSP00000275493.2:p.Leu792Phe
ENST00000442591.5:c.*28+8455C>T (EGFR)	ENSP00000410031.1:n.*28+8455C>T
ENST00000454757.6:c.2239C>T (EGFR)	ENSP00000395243.3:p.Leu747Phe
ENST00000455089.5:c.2239C>T (EGFR)	ENSP00000415559.1:p.Leu747Phe
NM_005228.3:c.2374C>T , LRG_304t1:c.2374C>T (EGFR)	NP_005219.2:p.Leu792Phe
NR_047551.1:n.1188G>A (EGFR-AS1)
NM_001346897.1:c.2239C>T (EGFR)	NP_001333826.1:p.Leu747Phe
NM_001346898.1:c.2374C>T (EGFR)	NP_001333827.1:p.Leu792Phe
NM_001346899.1:c.2239C>T (EGFR)	NP_001333828.1:p.Leu747Phe
NM_001346900.1:c.2215C>T (EGFR)	NP_001333829.1:p.Leu739Phe
NM_001346941.1:c.1573C>T (EGFR)	NP_001333870.1:p.Leu525Phe
NM_005228.4:c.2374C>T (EGFR)	NP_005219.2:p.Leu792Phe
NM_005228.5:c.2374C>T (EGFR) MANE Select	NP_005219.2:p.Leu792Phe
NM_001346897.2:c.2239C>T (EGFR)	NP_001333826.1:p.Leu747Phe
NM_001346898.2:c.2374C>T (EGFR)	NP_001333827.1:p.Leu792Phe
NM_001346900.2:c.2215C>T (EGFR)	NP_001333829.1:p.Leu739Phe
NM_001346941.2:c.1573C>T (EGFR)	NP_001333870.1:p.Leu525Phe
NM_001346899.2:c.2239C>T (EGFR)	NP_001333828.1:p.Leu747Phe