Canonical Allele Identifier: CA454965670

Gene: EGFR

Linked Data

• ClinVar Variation Id: 1596596
• ClinVar RCV Id: RCV002117416
• dbSNP Id: rs1787412092
• gnomAD v4: 7-55191859-T-C
• MyVariant Identifiers: chr7:g.55259552T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55191859T>C , CM000669.2:g.55191859T>C	GRCh38
NC_000007.13:g.55259552T>C , CM000669.1:g.55259552T>C	GRCh37
NC_000007.12:g.55227046T>C	NCBI36
NG_007726.3:g.177828T>C , LRG_304:g.177828T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2451T>C	ENSP00000413354.2:p.His817=
ENST00000700145.1:c.899+60T>C
ENST00000275493.7:c.2610T>C MANE Select	ENSP00000275493.2:p.His870=
ENST00000275493.6:c.2610T>C	ENSP00000275493.2:p.His870=
ENST00000442591.5:c.*28+18931T>C	ENSP00000410031.1:n.*28+18931T>C
ENST00000454757.6:c.2475T>C	ENSP00000395243.3:p.His825=
ENST00000455089.5:c.2475T>C	ENSP00000415559.1:p.His825=
NM_005228.3:c.2610T>C , LRG_304t1:c.2610T>C	NP_005219.2:p.His870=
NM_001346897.1:c.2475T>C	NP_001333826.1:p.His825=
NM_001346898.1:c.2610T>C	NP_001333827.1:p.His870=
NM_001346899.1:c.2475T>C	NP_001333828.1:p.His825=
NM_001346900.1:c.2451T>C	NP_001333829.1:p.His817=
NM_001346941.1:c.1809T>C	NP_001333870.1:p.His603=
NM_005228.4:c.2610T>C	NP_005219.2:p.His870=
NM_005228.5:c.2610T>C MANE Select	NP_005219.2:p.His870=
NM_001346897.2:c.2475T>C	NP_001333826.1:p.His825=
NM_001346898.2:c.2610T>C	NP_001333827.1:p.His870=
NM_001346900.2:c.2451T>C	NP_001333829.1:p.His817=
NM_001346941.2:c.1809T>C	NP_001333870.1:p.His603=
NM_001346899.2:c.2475T>C	NP_001333828.1:p.His825=