Canonical Allele Identifier: CA367582394

Gene: EGFR

Linked Data

• dbSNP Id: rs2128971517
• MyVariant Identifiers: chr7:g.55268909C>A (hg19) ; chr7:g.55201216C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55201216C>A , CM000669.2:g.55201216C>A	GRCh38
NC_000007.13:g.55268909C>A , CM000669.1:g.55268909C>A	GRCh37
NC_000007.12:g.55236403C>A	NCBI36
NG_007726.3:g.187185C>A , LRG_304:g.187185C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2816C>A	ENSP00000413354.2:p.Pro939His
ENST00000700145.1:c.900-4131C>A
ENST00000700146.1:n.719C>A
ENST00000700147.1:n.644C>A
ENST00000275493.7:c.2975C>A MANE Select	ENSP00000275493.2:p.Pro992His
ENST00000275493.6:c.2975C>A	ENSP00000275493.2:p.Pro992His
ENST00000442591.5:c.*28+28288C>A	ENSP00000410031.1:n.*28+28288C>A
ENST00000454757.6:c.2840C>A	ENSP00000395243.3:p.Pro947His
ENST00000455089.5:c.2840C>A	ENSP00000415559.1:p.Pro947His
NM_005228.3:c.2975C>A , LRG_304t1:c.2975C>A	NP_005219.2:p.Pro992His
NM_001346897.1:c.2840C>A	NP_001333826.1:p.Pro947His
NM_001346898.1:c.2975C>A	NP_001333827.1:p.Pro992His
NM_001346899.1:c.2840C>A	NP_001333828.1:p.Pro947His
NM_001346900.1:c.2816C>A	NP_001333829.1:p.Pro939His
NM_001346941.1:c.2174C>A	NP_001333870.1:p.Pro725His
NM_005228.4:c.2975C>A	NP_005219.2:p.Pro992His
NM_005228.5:c.2975C>A MANE Select	NP_005219.2:p.Pro992His
NM_001346897.2:c.2840C>A	NP_001333826.1:p.Pro947His
NM_001346898.2:c.2975C>A	NP_001333827.1:p.Pro992His
NM_001346900.2:c.2816C>A	NP_001333829.1:p.Pro939His
NM_001346941.2:c.2174C>A	NP_001333870.1:p.Pro725His
NM_001346899.2:c.2840C>A	NP_001333828.1:p.Pro947His