Canonical Allele Identifier: CA1101530847

Gene: EGFR EGFR-AS1

Linked Data

• dbSNP Id: rs1787009326
• gnomAD v3: 7-55183917-G-C
• gnomAD v4: 7-55183917-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55183917G>C , CM000669.2:g.55183917G>C	GRCh38
NC_000007.13:g.55251610G>C , CM000669.1:g.55251610G>C	GRCh37
NC_000007.12:g.55219104G>C	NCBI36
NG_007726.3:g.169886G>C , LRG_304:g.169886G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2310+2439G>C (EGFR)	ENSP00000413354.2:n.2310+2439G>C
ENST00000700145.1:c.818+2439G>C (EGFR)
ENST00000275493.7:c.2469+2439G>C (EGFR) MANE Select	ENSP00000275493.2:n.2469+2439G>C
ENST00000275493.6:c.2469+2439G>C (EGFR)	ENSP00000275493.2:n.2469+2439G>C
ENST00000442591.5:c.*28+10989G>C (EGFR)	ENSP00000410031.1:n.*28+10989G>C
ENST00000454757.6:c.2334+2439G>C (EGFR)	ENSP00000395243.3:n.2334+2439G>C
ENST00000455089.5:c.2334+2439G>C (EGFR)	ENSP00000415559.1:n.2334+2439G>C
NM_005228.3:c.2469+2439G>C , LRG_304t1:c.2469+2439G>C (EGFR)	NP_005219.2:n.2469+2439G>C
NR_047551.1:n.94-1440C>G (EGFR-AS1)
NM_001346897.1:c.2334+2439G>C (EGFR)	NP_001333826.1:n.2334+2439G>C
NM_001346898.1:c.2469+2439G>C (EGFR)	NP_001333827.1:n.2469+2439G>C
NM_001346899.1:c.2334+2439G>C (EGFR)	NP_001333828.1:n.2334+2439G>C
NM_001346900.1:c.2310+2439G>C (EGFR)	NP_001333829.1:n.2310+2439G>C
NM_001346941.1:c.1668+2439G>C (EGFR)	NP_001333870.1:n.1668+2439G>C
NM_005228.4:c.2469+2439G>C (EGFR)	NP_005219.2:n.2469+2439G>C
NM_005228.5:c.2469+2439G>C (EGFR) MANE Select	NP_005219.2:n.2469+2439G>C
NM_001346897.2:c.2334+2439G>C (EGFR)	NP_001333826.1:n.2334+2439G>C
NM_001346898.2:c.2469+2439G>C (EGFR)	NP_001333827.1:n.2469+2439G>C
NM_001346900.2:c.2310+2439G>C (EGFR)	NP_001333829.1:n.2310+2439G>C
NM_001346941.2:c.1668+2439G>C (EGFR)	NP_001333870.1:n.1668+2439G>C
NM_001346899.2:c.2334+2439G>C (EGFR)	NP_001333828.1:n.2334+2439G>C