Canonical Allele Identifier: CA12468545

Gene: EGFR EGFR-AS1

Linked Data

• ClinVar Variation Id: 1289881
• ClinVar RCV Id: RCV001714818
• dbSNP Id: rs10241451
• gnomAD v2: 7-55248926-T-C
• gnomAD v3: 7-55181233-T-C
• gnomAD v4: 7-55181233-T-C
• MyVariant Identifiers: chr7:g.55248926T>C (hg19) ; chr7:g.55181233T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181233T>C , CM000669.2:g.55181233T>C	GRCh38
NC_000007.13:g.55248926T>C , CM000669.1:g.55248926T>C	GRCh37
NC_000007.12:g.55216420T>C	NCBI36
NG_007726.3:g.167202T>C , LRG_304:g.167202T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2125-60T>C (EGFR)	ENSP00000413354.2:n.2125-60T>C
ENST00000700145.1:c.633-60T>C (EGFR)
ENST00000275493.7:c.2284-60T>C (EGFR) MANE Select	ENSP00000275493.2:n.2284-60T>C
ENST00000275493.6:c.2284-60T>C (EGFR)	ENSP00000275493.2:n.2284-60T>C
ENST00000442591.5:c.*28+8305T>C (EGFR)	ENSP00000410031.1:n.*28+8305T>C
ENST00000454757.6:c.2149-60T>C (EGFR)	ENSP00000395243.3:n.2149-60T>C
ENST00000455089.5:c.2149-60T>C (EGFR)	ENSP00000415559.1:n.2149-60T>C
NM_005228.3:c.2284-60T>C , LRG_304t1:c.2284-60T>C (EGFR)	NP_005219.2:n.2284-60T>C
NR_047551.1:n.1338A>G (EGFR-AS1)
NM_001346897.1:c.2149-60T>C (EGFR)	NP_001333826.1:n.2149-60T>C
NM_001346898.1:c.2284-60T>C (EGFR)	NP_001333827.1:n.2284-60T>C
NM_001346899.1:c.2149-60T>C (EGFR)	NP_001333828.1:n.2149-60T>C
NM_001346900.1:c.2125-60T>C (EGFR)	NP_001333829.1:n.2125-60T>C
NM_001346941.1:c.1483-60T>C (EGFR)	NP_001333870.1:n.1483-60T>C
NM_005228.4:c.2284-60T>C (EGFR)	NP_005219.2:n.2284-60T>C
NM_005228.5:c.2284-60T>C (EGFR) MANE Select	NP_005219.2:n.2284-60T>C
NM_001346897.2:c.2149-60T>C (EGFR)	NP_001333826.1:n.2149-60T>C
NM_001346898.2:c.2284-60T>C (EGFR)	NP_001333827.1:n.2284-60T>C
NM_001346900.2:c.2125-60T>C (EGFR)	NP_001333829.1:n.2125-60T>C
NM_001346941.2:c.1483-60T>C (EGFR)	NP_001333870.1:n.1483-60T>C
NM_001346899.2:c.2149-60T>C (EGFR)	NP_001333828.1:n.2149-60T>C