Canonical Allele Identifier: CA4266231

Gene: EGFR

Linked Data

• dbSNP Id: rs748011710
• ExAC: 7:55268905 A / C
• gnomAD v2: 7-55268905-A-C
• gnomAD v4: 7-55201212-A-C
• MyVariant Identifiers: chr7:g.55268905A>C (hg19) ; chr7:g.55201212A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55201212A>C , CM000669.2:g.55201212A>C	GRCh38
NC_000007.13:g.55268905A>C , CM000669.1:g.55268905A>C	GRCh37
NC_000007.12:g.55236399A>C	NCBI36
NG_007726.3:g.187181A>C , LRG_304:g.187181A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2812A>C	ENSP00000413354.2:p.Ser938Arg
ENST00000700145.1:c.900-4135A>C
ENST00000700146.1:n.715A>C
ENST00000700147.1:n.640A>C
ENST00000275493.7:c.2971A>C MANE Select	ENSP00000275493.2:p.Ser991Arg
ENST00000275493.6:c.2971A>C	ENSP00000275493.2:p.Ser991Arg
ENST00000442591.5:c.*28+28284A>C	ENSP00000410031.1:n.*28+28284A>C
ENST00000454757.6:c.2836A>C	ENSP00000395243.3:p.Ser946Arg
ENST00000455089.5:c.2836A>C	ENSP00000415559.1:p.Ser946Arg
NM_005228.3:c.2971A>C , LRG_304t1:c.2971A>C	NP_005219.2:p.Ser991Arg
NM_001346897.1:c.2836A>C	NP_001333826.1:p.Ser946Arg
NM_001346898.1:c.2971A>C	NP_001333827.1:p.Ser991Arg
NM_001346899.1:c.2836A>C	NP_001333828.1:p.Ser946Arg
NM_001346900.1:c.2812A>C	NP_001333829.1:p.Ser938Arg
NM_001346941.1:c.2170A>C	NP_001333870.1:p.Ser724Arg
NM_005228.4:c.2971A>C	NP_005219.2:p.Ser991Arg
NM_005228.5:c.2971A>C MANE Select	NP_005219.2:p.Ser991Arg
NM_001346897.2:c.2836A>C	NP_001333826.1:p.Ser946Arg
NM_001346898.2:c.2971A>C	NP_001333827.1:p.Ser991Arg
NM_001346900.2:c.2812A>C	NP_001333829.1:p.Ser938Arg
NM_001346941.2:c.2170A>C	NP_001333870.1:p.Ser724Arg
NM_001346899.2:c.2836A>C	NP_001333828.1:p.Ser946Arg