Canonical Allele Identifier: CA4266062

Gene: EGFR EGFR-AS1

Linked Data

• ClinVar Variation Id: 1155750
• ClinVar RCV Id: RCV001498182
• dbSNP Id: rs376452156
• ExAC: 7:55249072 G / A
• gnomAD v2: 7-55249072-G-A
• gnomAD v3: 7-55181379-G-A
• gnomAD v4: 7-55181379-G-A
• MyVariant Identifiers: chr7:g.55249072G>A (hg19) ; chr7:g.55181379G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181379G>A , CM000669.2:g.55181379G>A	GRCh38
NC_000007.13:g.55249072G>A , CM000669.1:g.55249072G>A	GRCh37
NC_000007.12:g.55216566G>A	NCBI36
NG_007726.3:g.167348G>A , LRG_304:g.167348G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2211G>A (EGFR)	ENSP00000413354.2:p.Thr737=
ENST00000700145.1:c.719G>A (EGFR)
ENST00000275493.7:c.2370G>A (EGFR) MANE Select	ENSP00000275493.2:p.Thr790=
ENST00000275493.6:c.2370G>A (EGFR)	ENSP00000275493.2:p.Thr790=
ENST00000442591.5:c.*28+8451G>A (EGFR)	ENSP00000410031.1:n.*28+8451G>A
ENST00000454757.6:c.2235G>A (EGFR)	ENSP00000395243.3:p.Thr745=
ENST00000455089.5:c.2235G>A (EGFR)	ENSP00000415559.1:p.Thr745=
NM_005228.3:c.2370G>A , LRG_304t1:c.2370G>A (EGFR)	NP_005219.2:p.Thr790=
NR_047551.1:n.1192C>T (EGFR-AS1)
NM_001346897.1:c.2235G>A (EGFR)	NP_001333826.1:p.Thr745=
NM_001346898.1:c.2370G>A (EGFR)	NP_001333827.1:p.Thr790=
NM_001346899.1:c.2235G>A (EGFR)	NP_001333828.1:p.Thr745=
NM_001346900.1:c.2211G>A (EGFR)	NP_001333829.1:p.Thr737=
NM_001346941.1:c.1569G>A (EGFR)	NP_001333870.1:p.Thr523=
NM_005228.4:c.2370G>A (EGFR)	NP_005219.2:p.Thr790=
NM_005228.5:c.2370G>A (EGFR) MANE Select	NP_005219.2:p.Thr790=
NM_001346897.2:c.2235G>A (EGFR)	NP_001333826.1:p.Thr745=
NM_001346898.2:c.2370G>A (EGFR)	NP_001333827.1:p.Thr790=
NM_001346900.2:c.2211G>A (EGFR)	NP_001333829.1:p.Thr737=
NM_001346941.2:c.1569G>A (EGFR)	NP_001333870.1:p.Thr523=
NM_001346899.2:c.2235G>A (EGFR)	NP_001333828.1:p.Thr745=