Canonical Allele Identifier: CA158927293

Gene: EGFR

Linked Data

• dbSNP Id: rs543776482
• gnomAD v2: 7-55235996-A-C
• gnomAD v3: 7-55168303-A-C
• gnomAD v4: 7-55168303-A-C
• MyVariant Identifiers: chr7:g.55235996A>C (hg19) ; chr7:g.55168303A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55168303A>C , CM000669.2:g.55168303A>C	GRCh38
NC_000007.13:g.55235996A>C , CM000669.1:g.55235996A>C	GRCh37
NC_000007.12:g.55203490A>C	NCBI36
NG_007726.3:g.154272A>C , LRG_304:g.154272A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.1721+2866A>C	ENSP00000413354.2:n.1721+2866A>C
ENST00000700145.1:c.229+2866A>C
ENST00000344576.7:c.1881-2004A>C	ENSP00000345973.2:n.1881-2004A>C
ENST00000275493.7:c.1880+2866A>C MANE Select	ENSP00000275493.2:n.1880+2866A>C
ENST00000275493.6:c.1880+2866A>C	ENSP00000275493.2:n.1880+2866A>C
ENST00000342916.7:c.1881-220A>C	ENSP00000342376.3:n.1881-220A>C
ENST00000344576.6:c.1881-2004A>C	ENSP00000345973.2:n.1881-2004A>C
ENST00000442591.5:c.1880+2866A>C	ENSP00000410031.1:n.1880+2866A>C
ENST00000454757.6:c.1745+2866A>C	ENSP00000395243.3:n.1745+2866A>C
ENST00000455089.5:c.1745+2866A>C	ENSP00000415559.1:n.1745+2866A>C
NM_005228.3:c.1880+2866A>C , LRG_304t1:c.1880+2866A>C	NP_005219.2:n.1880+2866A>C
NM_201282.1:c.1881-220A>C	NP_958439.1:n.1881-220A>C
NM_201284.1:c.1881-2004A>C	NP_958441.1:n.1881-2004A>C
NM_001346897.1:c.1745+2866A>C	NP_001333826.1:n.1745+2866A>C
NM_001346898.1:c.1880+2866A>C	NP_001333827.1:n.1880+2866A>C
NM_001346899.1:c.1745+2866A>C	NP_001333828.1:n.1745+2866A>C
NM_001346900.1:c.1721+2866A>C	NP_001333829.1:n.1721+2866A>C
NM_001346941.1:c.1079+2866A>C	NP_001333870.1:n.1079+2866A>C
NM_005228.4:c.1880+2866A>C	NP_005219.2:n.1880+2866A>C
NM_005228.5:c.1880+2866A>C MANE Select	NP_005219.2:n.1880+2866A>C
NM_001346897.2:c.1745+2866A>C	NP_001333826.1:n.1745+2866A>C
NM_001346898.2:c.1880+2866A>C	NP_001333827.1:n.1880+2866A>C
NM_001346900.2:c.1721+2866A>C	NP_001333829.1:n.1721+2866A>C
NM_001346941.2:c.1079+2866A>C	NP_001333870.1:n.1079+2866A>C
NM_201282.2:c.1881-220A>C	NP_958439.1:n.1881-220A>C
NM_201284.2:c.1881-2004A>C	NP_958441.1:n.1881-2004A>C
NM_001346899.2:c.1745+2866A>C	NP_001333828.1:n.1745+2866A>C