Canonical Allele Identifier: CA2578893534
Gene: EGFR HGNC NCBI

Linked Data

dbSNP Id: rs1427909932
gnomAD v4: 7-55174635-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55174635G>C , CM000669.2:g.55174635G>C GRCh38
NC_000007.13:g.55242328G>C , CM000669.1:g.55242328G>C GRCh37
NC_000007.12:g.55209822G>C NCBI36
NG_007726.3:g.160604G>C , LRG_304:g.160604G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450046.2:c.2026-87G>C ENSP00000413354.2:n.2026-87G>C
ENST00000700145.1:c.534-87G>C
ENST00000275493.7:c.2185-87G>C MANE Select ENSP00000275493.2:n.2185-87G>C
ENST00000275493.6:c.2185-87G>C ENSP00000275493.2:n.2185-87G>C
ENST00000442591.5:c.*28+1707G>C ENSP00000410031.1:n.*28+1707G>C
ENST00000454757.6:c.2050-87G>C ENSP00000395243.3:n.2050-87G>C
ENST00000455089.5:c.2050-87G>C ENSP00000415559.1:n.2050-87G>C
NM_005228.3:c.2185-87G>C , LRG_304t1:c.2185-87G>C NP_005219.2:n.2185-87G>C
NM_001346897.1:c.2050-87G>C NP_001333826.1:n.2050-87G>C
NM_001346898.1:c.2185-87G>C NP_001333827.1:n.2185-87G>C
NM_001346899.1:c.2050-87G>C NP_001333828.1:n.2050-87G>C
NM_001346900.1:c.2026-87G>C NP_001333829.1:n.2026-87G>C
NM_001346941.1:c.1384-87G>C NP_001333870.1:n.1384-87G>C
NM_005228.4:c.2185-87G>C NP_005219.2:n.2185-87G>C
NM_005228.5:c.2185-87G>C MANE Select NP_005219.2:n.2185-87G>C
NM_001346897.2:c.2050-87G>C NP_001333826.1:n.2050-87G>C
NM_001346898.2:c.2185-87G>C NP_001333827.1:n.2185-87G>C
NM_001346900.2:c.2026-87G>C NP_001333829.1:n.2026-87G>C
NM_001346941.2:c.1384-87G>C NP_001333870.1:n.1384-87G>C
NM_001346899.2:c.2050-87G>C NP_001333828.1:n.2050-87G>C