Canonical Allele Identifier: CA1101530746

Gene: EGFR EGFR-AS1

Linked Data

• dbSNP Id: rs1786994023
• gnomAD v3: 7-55183621-C-T
• gnomAD v4: 7-55183621-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55183621C>T , CM000669.2:g.55183621C>T	GRCh38
NC_000007.13:g.55251314C>T , CM000669.1:g.55251314C>T	GRCh37
NC_000007.12:g.55218808C>T	NCBI36
NG_007726.3:g.169590C>T , LRG_304:g.169590C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2310+2143C>T (EGFR)	ENSP00000413354.2:n.2310+2143C>T
ENST00000700145.1:c.818+2143C>T (EGFR)
ENST00000275493.7:c.2469+2143C>T (EGFR) MANE Select	ENSP00000275493.2:n.2469+2143C>T
ENST00000275493.6:c.2469+2143C>T (EGFR)	ENSP00000275493.2:n.2469+2143C>T
ENST00000442591.5:c.*28+10693C>T (EGFR)	ENSP00000410031.1:n.*28+10693C>T
ENST00000454757.6:c.2334+2143C>T (EGFR)	ENSP00000395243.3:n.2334+2143C>T
ENST00000455089.5:c.2334+2143C>T (EGFR)	ENSP00000415559.1:n.2334+2143C>T
NM_005228.3:c.2469+2143C>T , LRG_304t1:c.2469+2143C>T (EGFR)	NP_005219.2:n.2469+2143C>T
NR_047551.1:n.94-1144G>A (EGFR-AS1)
NM_001346897.1:c.2334+2143C>T (EGFR)	NP_001333826.1:n.2334+2143C>T
NM_001346898.1:c.2469+2143C>T (EGFR)	NP_001333827.1:n.2469+2143C>T
NM_001346899.1:c.2334+2143C>T (EGFR)	NP_001333828.1:n.2334+2143C>T
NM_001346900.1:c.2310+2143C>T (EGFR)	NP_001333829.1:n.2310+2143C>T
NM_001346941.1:c.1668+2143C>T (EGFR)	NP_001333870.1:n.1668+2143C>T
NM_005228.4:c.2469+2143C>T (EGFR)	NP_005219.2:n.2469+2143C>T
NM_005228.5:c.2469+2143C>T (EGFR) MANE Select	NP_005219.2:n.2469+2143C>T
NM_001346897.2:c.2334+2143C>T (EGFR)	NP_001333826.1:n.2334+2143C>T
NM_001346898.2:c.2469+2143C>T (EGFR)	NP_001333827.1:n.2469+2143C>T
NM_001346900.2:c.2310+2143C>T (EGFR)	NP_001333829.1:n.2310+2143C>T
NM_001346941.2:c.1668+2143C>T (EGFR)	NP_001333870.1:n.1668+2143C>T
NM_001346899.2:c.2334+2143C>T (EGFR)	NP_001333828.1:n.2334+2143C>T