Canonical Allele Identifier: CA4266056

Gene: EGFR EGFR-AS1

Linked Data

• ClinVar Variation Id: 847678
• ClinVar RCV Id: RCV001051275
• dbSNP Id: rs397517118
• ExAC: 7:55249036 G / A
• gnomAD v2: 7-55249036-G-A
• gnomAD v3: 7-55181343-G-A
• gnomAD v4: 7-55181343-G-A
• MyVariant Identifiers: chr7:g.55249036G>A (hg19) ; chr7:g.55181343G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181343G>A , CM000669.2:g.55181343G>A	GRCh38
NC_000007.13:g.55249036G>A , CM000669.1:g.55249036G>A	GRCh37
NC_000007.12:g.55216530G>A	NCBI36
NG_007726.3:g.167312G>A , LRG_304:g.167312G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2175G>A (EGFR)	ENSP00000413354.2:p.Leu725=
ENST00000700145.1:c.683G>A (EGFR)
ENST00000275493.7:c.2334G>A (EGFR) MANE Select	ENSP00000275493.2:p.Leu778=
ENST00000275493.6:c.2334G>A (EGFR)	ENSP00000275493.2:p.Leu778=
ENST00000442591.5:c.*28+8415G>A (EGFR)	ENSP00000410031.1:n.*28+8415G>A
ENST00000454757.6:c.2199G>A (EGFR)	ENSP00000395243.3:p.Leu733=
ENST00000455089.5:c.2199G>A (EGFR)	ENSP00000415559.1:p.Leu733=
NM_005228.3:c.2334G>A , LRG_304t1:c.2334G>A (EGFR)	NP_005219.2:p.Leu778=
NR_047551.1:n.1228C>T (EGFR-AS1)
NM_001346897.1:c.2199G>A (EGFR)	NP_001333826.1:p.Leu733=
NM_001346898.1:c.2334G>A (EGFR)	NP_001333827.1:p.Leu778=
NM_001346899.1:c.2199G>A (EGFR)	NP_001333828.1:p.Leu733=
NM_001346900.1:c.2175G>A (EGFR)	NP_001333829.1:p.Leu725=
NM_001346941.1:c.1533G>A (EGFR)	NP_001333870.1:p.Leu511=
NM_005228.4:c.2334G>A (EGFR)	NP_005219.2:p.Leu778=
NM_005228.5:c.2334G>A (EGFR) MANE Select	NP_005219.2:p.Leu778=
NM_001346897.2:c.2199G>A (EGFR)	NP_001333826.1:p.Leu733=
NM_001346898.2:c.2334G>A (EGFR)	NP_001333827.1:p.Leu778=
NM_001346900.2:c.2175G>A (EGFR)	NP_001333829.1:p.Leu725=
NM_001346941.2:c.1533G>A (EGFR)	NP_001333870.1:p.Leu511=
NM_001346899.2:c.2199G>A (EGFR)	NP_001333828.1:p.Leu733=