Canonical Allele Identifier: CA1101518200

Gene: EGFR

Linked Data

• dbSNP Id: rs1786510409
• gnomAD v3: 7-55174663-C-T
• gnomAD v4: 7-55174663-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55174663C>T , CM000669.2:g.55174663C>T	GRCh38
NC_000007.13:g.55242356C>T , CM000669.1:g.55242356C>T	GRCh37
NC_000007.12:g.55209850C>T	NCBI36
NG_007726.3:g.160632C>T , LRG_304:g.160632C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450046.2:c.2026-59C>T	ENSP00000413354.2:n.2026-59C>T
ENST00000700145.1:c.534-59C>T
ENST00000275493.7:c.2185-59C>T MANE Select	ENSP00000275493.2:n.2185-59C>T
ENST00000275493.6:c.2185-59C>T	ENSP00000275493.2:n.2185-59C>T
ENST00000442591.5:c.*28+1735C>T	ENSP00000410031.1:n.*28+1735C>T
ENST00000454757.6:c.2050-59C>T	ENSP00000395243.3:n.2050-59C>T
ENST00000455089.5:c.2050-59C>T	ENSP00000415559.1:n.2050-59C>T
NM_005228.3:c.2185-59C>T , LRG_304t1:c.2185-59C>T	NP_005219.2:n.2185-59C>T
NM_001346897.1:c.2050-59C>T	NP_001333826.1:n.2050-59C>T
NM_001346898.1:c.2185-59C>T	NP_001333827.1:n.2185-59C>T
NM_001346899.1:c.2050-59C>T	NP_001333828.1:n.2050-59C>T
NM_001346900.1:c.2026-59C>T	NP_001333829.1:n.2026-59C>T
NM_001346941.1:c.1384-59C>T	NP_001333870.1:n.1384-59C>T
NM_005228.4:c.2185-59C>T	NP_005219.2:n.2185-59C>T
NM_005228.5:c.2185-59C>T MANE Select	NP_005219.2:n.2185-59C>T
NM_001346897.2:c.2050-59C>T	NP_001333826.1:n.2050-59C>T
NM_001346898.2:c.2185-59C>T	NP_001333827.1:n.2185-59C>T
NM_001346900.2:c.2026-59C>T	NP_001333829.1:n.2026-59C>T
NM_001346941.2:c.1384-59C>T	NP_001333870.1:n.1384-59C>T
NM_001346899.2:c.2050-59C>T	NP_001333828.1:n.2050-59C>T